(used for variant description)
(last modified December 4, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000392.3 in the ABCC2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011798.1, covering ABCC2 transcript NM_000392.3.
(upstream sequence)
. g.5019
ggatgaaaggtcatccttt c.-121
. . . . . . g.5079
acggagaacatcagaatggtagataattcctgttccactttctttgatgaaacaagtaaa c.-61
. . . . . . g.5139
gaagaaacaacacaatcatattaatagaagagtcttcgttccagacgcagtccaggaatc c.-1
. . . | 02 . . . g.6929
ATGCTGGAGAAGTTCTGCAACTCTACTTTTTGG | AATTCCTCATTCCTGGACAGTCCGGAG c.60
M L E K F C N S T F W | N S S F L D S P E p.20
. . . . . . g.6989
GCAGACCTGCCACTTTGTTTTGAGCAAACTGTTCTGGTGTGGATTCCCTTGGGCTACCTA c.120
A D L P L C F E Q T V L V W I P L G Y L p.40
. . . . . . g.7049
TGGCTCCTGGCCCCCTGGCAGCTTCTCCACGTGTATAAATCCAGGACCAAGAGATCCTCT c.180
W L L A P W Q L L H V Y K S R T K R S S p.60
. . | 03. . . . g.14561
ACCACCAAACTCTATCTTGCTAAGCAG | GTATTCGTTGGTTTTCTTCTTATTCTAGCAGCC c.240
T T K L Y L A K Q | V F V G F L L I L A A p.80
. . . . . . g.14621
ATAGAGCTGGCCCTTGTACTCACAGAAGACTCTGGACAAGCCACAGTCCCTGCTGTTCGA c.300
I E L A L V L T E D S G Q A T V P A V R p.100
. . . | 04 . . . g.15872
TATACCAATCCAAGCCTCTACCTAGGCACATGG | CTCCTGGTTTTGCTGATCCAATACAGC c.360
Y T N P S L Y L G T W | L L V L L I Q Y S p.120
. . . . . . g.15932
AGACAATGGTGTGTACAGAAAAACTCCTGGTTCCTGTCCCTATTCTGGATTCTCTCGATA c.420
R Q W C V Q K N S W F L S L F W I L S I p.140
. . . . | 05 . g.16198
CTCTGTGGCACTTTCCAATTTCAGACTCTGATCCGGACACTCTTACAG | GGTGACAATTCT c.480
L C G T F Q F Q T L I R T L L Q | G D N S p.160
. . . . . . g.16258
AATCTAGCCTACTCCTGCCTGTTCTTCATCTCCTACGGATTCCAGATCCTGATCCTGATC c.540
N L A Y S C L F F I S Y G F Q I L I L I p.180
. . . | 06 . . . g.16731
TTTTCAGCATTTTCAGAAAATAATGAGTCATCAAAT | AATCCATCATCCATAGCTTCATTC c.600
F S A F S E N N E S S N | N P S S I A S F p.200
. . . | 07 . . . g.19419
CTGAGTAGCATTACCTACAGCTGGTATGACAG | CATCATTCTGAAAGGCTACAAGCGTCCT c.660
L S S I T Y S W Y D S | I I L K G Y K R P p.220
. . . . . . g.19479
CTGACACTCGAGGATGTCTGGGAAGTTGATGAAGAGATGAAAACCAAGACATTAGTGAGC c.720
L T L E D V W E V D E E M K T K T L V S p.240
. . . . . . g.19539
AAGTTTGAAACGCACATGAAGAGAGAGCTGCAGAAAGCCAGGCGGGCACTCCAGAGACGG c.780
K F E T H M K R E L Q K A R R A L Q R R p.260
. . . . . . g.19599
CAGGAGAAGAGCTCCCAGCAGAACTCTGGAGCCAGGCTGCCTGGCTTGAACAAGAATCAG c.840
Q E K S S Q Q N S G A R L P G L N K N Q p.280
. . | 08. . . . g.21534
AGTCAAAGCCAAGATGCCCTTGTCCTG | GAAGATGTTGAAAAGAAAAAAAAGAAGTCTGGG c.900
S Q S Q D A L V L | E D V E K K K K K S G p.300
. . . . . . g.21594
ACCAAAAAAGATGTTCCAAAATCCTGGTTGATGAAGGCTCTGTTCAAAACTTTCTACATG c.960
T K K D V P K S W L M K A L F K T F Y M p.320
. . . . . . g.21654
GTGCTCCTGAAATCATTCCTACTGAAGCTAGTGAATGACATCTTCACGTTTGTGAGTCCT c.1020
V L L K S F L L K L V N D I F T F V S P p.340
. | 09 . . . . . g.22729
CAGCTGCTGAA | ATTGCTGATCTCCTTTGCAAGTGACCGTGACACATATTTGTGGATTGGA c.1080
Q L L K | L L I S F A S D R D T Y L W I G p.360
. . . . . . g.22789
TATCTCTGTGCAATCCTCTTATTCACTGCGGCTCTCATTCAGTCTTTCTGCCTTCAGTGT c.1140
Y L C A I L L F T A A L I Q S F C L Q C p.380
. . . . . . g.22849
TATTTCCAACTGTGCTTCAAGCTGGGTGTAAAAGTACGGACAGCTATCATGGCTTCTGTA c.1200
Y F Q L C F K L G V K V R T A I M A S V p.400
| 10 . . . . . g.26364
TATAAGAAG | GCATTGACCCTATCCAACTTGGCCAGGAAGGAGTACACCGTTGGAGAAACA c.1260
Y K K | A L T L S N L A R K E Y T V G E T p.420
. . . . . . g.26424
GTGAACCTGATGTCTGTGGATGCCCAGAAGCTCATGGATGTGACCAACTTCATGCACATG c.1320
V N L M S V D A Q K L M D V T N F M H M p.440
. . . . . . g.26484
CTGTGGTCAAGTGTTCTACAGATTGTCTTATCTATCTTCTTCCTATGGAGAGAGTTGGGA c.1380
L W S S V L Q I V L S I F F L W R E L G p.460
. . . . . . g.26544
CCCTCAGTCTTAGCAGGTGTTGGGGTGATGGTGCTTGTAATCCCAATTAATGCGATACTG c.1440
P S V L A G V G V M V L V I P I N A I L p.480
. . | 11 . . . . g.27712
TCCACCAAGAGTAAGACCATTCAG | GTCAAAAATATGAAGAATAAAGACAAACGTTTAAAG c.1500
S T K S K T I Q | V K N M K N K D K R L K p.500
. . . | 12 . . . g.29708
ATCATGAATGAGATTCTTAGTGGAATCAAG | ATCCTGAAATATTTTGCCTGGGAACCTTCA c.1560
I M N E I L S G I K | I L K Y F A W E P S p.520
. . . . . . g.29768
TTCAGAGACCAAGTACAAAACCTCCGGAAGAAAGAGCTCAAGAACCTGCTGGCCTTTAGT c.1620
F R D Q V Q N L R K K E L K N L L A F S p.540
. . . . | 13 . g.30389
CAACTACAGTGTGTAGTAATATTCGTCTTCCAGTTAACTCCAGTCCTG | GTATCTGTGGTC c.1680
Q L Q C V V I F V F Q L T P V L | V S V V p.560
. . . . . . g.30449
ACATTTTCTGTTTATGTCCTGGTGGATAGCAACAATATTTTGGATGCACAAAAGGCCTTC c.1740
T F S V Y V L V D S N N I L D A Q K A F p.580
. . . . . . g.30509
ACCTCCATTACCCTCTTCAATATCCTGCGCTTTCCCCTGAGCATGCTTCCCATGATGATC c.1800
T S I T L F N I L R F P L S M L P M M I p.600
. | 14 . . . . . g.32473
TCCTCCATGCTCCAG | GCCAGTGTTTCCACAGAGCGGCTAGAGAAGTACTTGGGAGGGGAT c.1860
S S M L Q | A S V S T E R L E K Y L G G D p.620
. . . . | 15 . . g.33850
GACTTGGACACATCTGCCATTCGACATGACTGCAATTTTG | ACAAAGCCATGCAGTTTTCT c.1920
D L D T S A I R H D C N F D | K A M Q F S p.640
. . . . | 16. . g.35325
GAGGCCTCCTTTACCTGGGAACATGATTCGGAAGCCACAGTCCGAGA | TGTGAACCTGGAC c.1980
E A S F T W E H D S E A T V R D | V N L D p.660
. . . . . . g.35385
ATTATGGCAGGCCAACTTGTGGCTGTGATAGGCCCTGTCGGCTCTGGGAAATCCTCCTTG c.2040
I M A G Q L V A V I G P V G S G K S S L p.680
. . . . . | 17 . g.39608
ATATCAGCCATGCTGGGAGAAATGGAAAATGTCCACGGGCACATCACCATCAAG | GGCACC c.2100
I S A M L G E M E N V H G H I T I K | G T p.700
. . . . . . g.39668
ACTGCCTATGTCCCACAGCAGTCCTGGATTCAGAATGGCACCATAAAGGACAACATCCTT c.2160
T A Y V P Q Q S W I Q N G T I K D N I L p.720
. . . . . . g.39728
TTTGGAACAGAGTTTAATGAAAAGAGGTACCAGCAAGTACTGGAGGCCTGTGCTCTCCTC c.2220
F G T E F N E K R Y Q Q V L E A C A L L p.740
. . . . . | 18 . g.41093
CCAGACTTGGAAATGCTGCCTGGAGGAGATTTGGCTGAGATTGGAGAGAAG | GGTATAAAT c.2280
P D L E M L P G G D L A E I G E K | G I N p.760
. . . . . . g.41153
CTTAGTGGGGGTCAGAAGCAGCGGATCAGCCTGGCCAGAGCTACCTACCAAAATTTAGAC c.2340
L S G G Q K Q R I S L A R A T Y Q N L D p.780
. . . . . . g.41213
ATCTATCTTCTAGATGACCCCCTGTCTGCAGTGGATGCTCATGTAGGAAAACATATTTTT c.2400
I Y L L D D P L S A V D A H V G K H I F p.800
. . . | 19 . . g.41404
AATAAGGTCTTGGGCCCCAATGGCCTGTTGAAAGGCAAG | ACTCGACTCTTGGTTACACAT c.2460
N K V L G P N G L L K G K | T R L L V T H p.820
. . . . . . g.41464
AGCATGCACTTTCTTCCTCAAGTGGATGAGATTGTAGTTCTGGGGAATGGAACAATTGTA c.2520
S M H F L P Q V D E I V V L G N G T I V p.840
. . . . . . g.41524
GAGAAAGGATCCTACAGTGCTCTCCTGGCCAAAAAAGGAGAGTTTGCTAAGAATCTGAAG c.2580
E K G S Y S A L L A K K G E F A K N L K p.860
. . . . | 20 . . g.52621
ACATTTCTAAGACATACAGGCCCTGAAGAGGAAGCCACAG | TCCATGATGGCAGTGAAGAA c.2640
T F L R H T G P E E E A T V | H D G S E E p.880
. . . . . . g.52681
GAAGACGATGACTATGGGCTGATATCCAGTGTGGAAGAGATCCCCGAAGATGCAGCCTCC c.2700
E D D D Y G L I S S V E E I P E D A A S p.900
. . . . | 21. . g.53023
ATAACCATGAGAAGAGAGAACAGCTTTCGTCGAACACTTAGCCGCAG | TTCTAGGTCCAAT c.2760
I T M R R E N S F R R T L S R S | S R S N p.920
. . . . . . g.53083
GGCAGGCATCTGAAGTCCCTGAGAAACTCCTTGAAAACTCGGAATGTGAATAGCCTGAAG c.2820
G R H L K S L R N S L K T R N V N S L K p.940
. . . . . . g.53143
GAAGACGAAGAACTAGTGAAAGGACAAAAACTAATTAAGAAGGAATTCATAGAAACTGGA c.2880
E D E E L V K G Q K L I K K E F I E T G p.960
| 22 . . . . . . g.53962
AAG | GTGAAGTTCTCCATCTACCTGGAGTACCTACAAGCAATAGGATTGTTTTCGATATTC c.2940
K | V K F S I Y L E Y L Q A I G L F S I F p.980
. . . . . . g.54022
TTCATCATCCTTGCGTTTGTGATGAATTCTGTGGCTTTTATTGGATCCAACCTCTGGCTC c.3000
F I I L A F V M N S V A F I G S N L W L p.1000
. . . . . . g.54082
AGTGCTTGGACCAGTGACTCTAAAATCTTCAATAGCACCGACTATCCAGCATCTCAGAGG c.3060
S A W T S D S K I F N S T D Y P A S Q R p.1020
. . . . | 23 . . g.54288
GACATGAGAGTTGGAGTCTACGGAGCTCTGGGATTAGCCCAAG | GTATATTTGTGTTCATA c.3120
D M R V G V Y G A L G L A Q G | I F V F I p.1040
. . . . . . g.54348
GCACATTTCTGGAGTGCCTTTGGTTTCGTCCATGCATCAAATATCTTGCACAAGCAACTG c.3180
A H F W S A F G F V H A S N I L H K Q L p.1060
. . . . . . g.54408
CTGAACAATATCCTTCGAGCACCTATGAGATTTTTTGACACAACACCCACAGGCCGGATT c.3240
L N N I L R A P M R F F D T T P T G R I p.1080
. | 24 . . . . g.56716
GTGAACAGGTTTGCCGGC | GATATTTCCACAGTGGATGACACCCTGCCTCAGTCCTTGCGC c.3300
V N R F A G | D I S T V D D T L P Q S L R p.1100
. . . . . . g.56776
AGCTGGATTACATGCTTCCTGGGGATAATCAGCACCCTTGTCATGATCTGCATGGCCACT c.3360
S W I T C F L G I I S T L V M I C M A T p.1120
. . . . . | 25 . g.58391
CCTGTCTTCACCATCATCGTCATTCCTCTTGGCATTATTTATGTATCTGTTCAG | ATGTTT c.3420
P V F T I I V I P L G I I Y V S V Q | M F p.1140
. . . . . . g.58451
TATGTGTCTACCTCCCGCCAGCTGAGGCGTCTGGACTCTGTCACCAGGTCCCCAATCTAC c.3480
Y V S T S R Q L R R L D S V T R S P I Y p.1160
. . . . . . g.58511
TCTCACTTCAGCGAGACCGTATCAGGTTTGCCAGTTATCCGTGCCTTTGAGCACCAGCAG c.3540
S H F S E T V S G L P V I R A F E H Q Q p.1180
. . . . . . g.58571
CGATTTCTGAAACACAATGAGGTGAGGATTGACACCAACCAGAAATGTGTCTTTTCCTGG c.3600
R F L K H N E V R I D T N Q K C V F S W p.1200
. | 26 . . . . . g.64307
ATCACCTCCAACAG | GTGGCTTGCAATTCGCCTGGAGCTGGTTGGGAACCTGACTGTCTTC c.3660
I T S N R | W L A I R L E L V G N L T V F p.1220
. . . . . . g.64367
TTTTCAGCCTTGATGATGGTTATTTATAGAGATACCCTAAGTGGGGACACTGTTGGCTTT c.3720
F S A L M M V I Y R D T L S G D T V G F p.1240
. . | 27 . . . . g.66132
GTTCTGTCCAATGCACTCAAT | ATCACACAAACCCTGAACTGGCTGGTGAGGATGACATCA c.3780
V L S N A L N | I T Q T L N W L V R M T S p.1260
. . . . . . g.66192
GAAATAGAGACCAACATTGTGGCTGTTGAGCGAATAACTGAGTACACAAAAGTGGAAAAT c.3840
E I E T N I V A V E R I T E Y T K V E N p.1280
| 28 . . . . . . g.66673
GAG | GCACCCTGGGTGACTGATAAGAGGCCTCCGCCAGATTGGCCCAGCAAAGGCAAGATC c.3900
E | A P W V T D K R P P P D W P S K G K I p.1300
. . . . . . g.66733
CAGTTTAACAACTACCAAGTGCGGTACCGACCTGAGCTGGATCTGGTCCTCAGAGGGATC c.3960
Q F N N Y Q V R Y R P E L D L V L R G I p.1320
. . | 29. . . . g.67951
ACTTGTGACATCGGTAGCATGGAGAAG | ATTGGTGTGGTGGGCAGGACAGGAGCTGGAAAG c.4020
T C D I G S M E K | I G V V G R T G A G K p.1340
. . . . . . g.68011
TCATCCCTCACAAACTGCCTCTTCAGAATCTTAGAGGCTGCCGGTGGTCAGATTATCATT c.4080
S S L T N C L F R I L E A A G G Q I I I p.1360
. . . . . . g.68071
GATGGAGTAGATATTGCTTCCATTGGGCTCCACGACCTCCGAGAGAAGCTGACCATCATC c.4140
D G V D I A S I G L H D L R E K L T I I p.1380
| 30 . . . . . . g.69309
CCCCAG | GACCCCATCCTGTTCTCTGGAAGCCTGAGGATGAATCTCGACCCTTTCAACAAC c.4200
P Q | D P I L F S G S L R M N L D P F N N p.1400
. . . . . . g.69369
TACTCAGATGAGGAGATTTGGAAGGCCTTGGAGCTGGCTCACCTCAAGTCTTTTGTGGCC c.4260
Y S D E E I W K A L E L A H L K S F V A p.1420
. . . . . | 31 . g.72903
AGCCTGCAACTTGGGTTATCCCACGAAGTGACAGAGGCTGGTGGCAACCTGAG | CATAGGC c.4320
S L Q L G L S H E V T E A G G N L S | I G p.1440
. . . . . . g.72963
CAGAGGCAGCTGCTGTGCCTGGGCAGGGCTCTGCTTCGGAAATCCAAGATCCTGGTCCTG c.4380
Q R Q L L C L G R A L L R K S K I L V L p.1460
. . . . . . g.73023
GATGAGGCCACTGCTGCGGTGGATCTAGAGACAGACAACCTCATTCAGACGACCATCCAA c.4440
D E A T A A V D L E T D N L I Q T T I Q p.1480
. . . . . . g.73083
AACGAGTTCGCCCACTGCACAGTGATCACCATCGCCCACAGGCTGCACACCATCATGGAC c.4500
N E F A H C T V I T I A H R L H T I M D p.1500
| 32 . . . . . g.73848
AGTGACAA | GGTAATGGTCCTAGACAACGGGAAGATTATAGAGTGCGGCAGCCCTGAAGAA c.4560
S D K | V M V L D N G K I I E C G S P E E p.1520
. . . . . . g.73908
CTGCTACAAATCCCTGGACCCTTTTACTTTATGGCTAAGGAAGCTGGCATTGAGAATGTG c.4620
L L Q I P G P F Y F M A K E A G I E N V p.1540
. g.73926
AACAGCACAAAATTCTAG c.4638
N S T K F X p.1545
. . . . . . g.73986
cagaaggccccatgggttagaaaaggactataagaataatttcttatttaattttatttt c.*60
. . . . . . g.74046
ttataaaatacagaatacatacaaaagtgtgtataaaatgtacgttttaaaaaaggataa c.*120
. . . . . . g.74106
gtgaacacccatgaacctactacccaggttaagaaaataaatgtcaccaggtacttgaga c.*180
. . . . . . g.74166
aacccctcgattgtctacctcgatcgtacttccttgctacccacccctcccagggacaac c.*240
. . . g.74200
cactgtcctgaatttcacgataattattcctttg c.*274
(downstream sequence)
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