(used for variant description)
(last modified October 24, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_005369.4 in the MCF2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016439.1, covering MCF2 transcript NM_005369.4.
(upstream sequence)
. . g.70404
aggacatgcctgatcttcttgag c.-301
. . . . . . g.70464
cagtccagcacaagctaatccacaaggttcaatcaggctaagtaattggaggaatgtgtt c.-241
. . . . . . g.70524
aactctgaattacaaggagcagaagggaaggatctgtcagctgactaatcagggatagtg c.-181
. . . . . . g.70584
gtttttttttttttttcctccccagcattgctgccactgtgctaatggaagcagccacgg c.-121
. . . . . . g.70644
cagctttgtttgatagagatttttggctgccgtttttaaatactacccaagaagcagctc c.-61
. . . . . . g.70704
gtatttcatcaatgttgcgttgacaattggaaaagaaaagtgtaattgcgtacaggcgaa c.-1
. . . . . | 02 . g.80777
ATGGCAGAAGCAAATCCCCGGAGAGGCAAGATGAGGTTCAGAAGGAATGCG | GCTTCCTTC c.60
M A E A N P R R G K M R F R R N A | A S F p.20
. . . . . . g.80837
CCTGGGAACTTGCACTTGGTTTTGGTTTTACGTCCTACCAGCTTTCTTCAACGAACGTTC c.120
P G N L H L V L V L R P T S F L Q R T F p.40
. . . . . | 03 . g.81720
ACAGACATTGGATTTTGGTTTAGTCAGGAGGATTTTATGCTTAAATTACCA | GTTGTTATG c.180
T D I G F W F S Q E D F M L K L P | V V M p.60
. . . . . . g.81780
CTGAGCTCAGTTAGTGATTTGCTGACATACATTGATGACAAGCAATTAACCCCTGAGTTA c.240
L S S V S D L L T Y I D D K Q L T P E L p.80
. . . . | 04 . g.83390
GGCGGCACCTTGCAGTACTGCCACAGTGAATGGATCATCTTCAGAAAT | GCTATAGAAAAT c.300
G G T L Q Y C H S E W I I F R N | A I E N p.100
. . . . . . g.83450
TTTGCCCTCACAGTGAAAGAAATGGCTCAGATGTTACAGTCCTTTGGAACTGAACTGGCT c.360
F A L T V K E M A Q M L Q S F G T E L A p.120
. . . . . . g.83510
GAGACAGAACTACCAGATGATATTCCCTCAATAGAAGAAATTCTGGCAATTCGTGCTGAA c.420
E T E L P D D I P S I E E I L A I R A E p.140
. | 05 . . . . g.86508
AGGTATCATCTGTTGAAG | AATGATATTACAGCTGTAACCAAAGAAGGAAAAATTCTGCTA c.480
R Y H L L K | N D I T A V T K E G K I L L p.160
. . . . . . g.86568
ACAAATCTGGAAGTGCCTGACACTGAAGGAGCTGTCAGTTCAAGACTAGAATGTCATCGG c.540
T N L E V P D T E G A V S S R L E C H R p.180
. . . | 06 . . . g.86943
CAAATAAGTGGTGACTGGCAAACTATTAATAA | GTTGCTGACTCAAGTACATGATATGGAA c.600
Q I S G D W Q T I N K | L L T Q V H D M E p.200
. . . . . . g.87003
ACAGCTTTTGATGGATTTTGGGAAAAACATCAATTAAAAATGGAGCAGTATCTGCAACTA c.660
T A F D G F W E K H Q L K M E Q Y L Q L p.220
. . | 07. . . . g.93549
TGGAAGTTTGAGCAGGATTTTCAACAG | CTTGTGACTGAAGTTGAATTTCTATTAAACCAA c.720
W K F E Q D F Q Q | L V T E V E F L L N Q p.240
. . . . . . g.93609
CAAGCAGAACTGGCTGATGTAACAGGGACTATAGCTCAAGTAAAACAAAAAATAAAAAAA c.780
Q A E L A D V T G T I A Q V K Q K I K K p.260
. . | 08. . . . g.95551
TTGGAAAACTTAGATGAAAATTCTCAG | GAGCTATTATCAAAGGCCCAGTTTGTGATATTA c.840
L E N L D E N S Q | E L L S K A Q F V I L p.280
. . . . . . g.95611
CATGGACACAAGCTTGCAGCAAATCACCATTATGCACTTGATTTAATCTGCCAGAGGTGC c.900
H G H K L A A N H H Y A L D L I C Q R C p.300
. . . . . . g.95671
AATGAGCTACGTTACCTTTCTGATATTTTGGTTAATGAGATAAAAGCAAAACGGATACAA c.960
N E L R Y L S D I L V N E I K A K R I Q p.320
. . . | 09 . . g.96770
CTCAGCAGGACCTTCAAAATGCATAAACTCCTACAGCAG | GCTCGTCAATGCTGTGATGAA c.1020
L S R T F K M H K L L Q Q | A R Q C C D E p.340
. . . . . . g.96830
GGGGAATGTCTTCTAGCTAATCAGGAAATAGATAAGTTTCAGTCTAAAGAAGATGCTCAG c.1080
G E C L L A N Q E I D K F Q S K E D A Q p.360
. . . . . . g.96890
AAAGCTCTCCAAGACATTGAAAATTTTCTTGAAATGGCTCTACCCTTTATAAATTATGAA c.1140
K A L Q D I E N F L E M A L P F I N Y E p.380
. . . . . | 10 . g.98179
CCTGAAACACTGCAGTATGAATTTGATGTAATATTATCTCCTGAGCTTAAG | GTTCAAATG c.1200
P E T L Q Y E F D V I L S P E L K | V Q M p.400
. . . . . . g.98239
AAGACTATACAACTCAAGCTTGAAAACATTCGAAGTATATTTGAGAACCAGCAGGCTGGT c.1260
K T I Q L K L E N I R S I F E N Q Q A G p.420
. . . . . . g.98299
TTCAGGAACCTGGCAGATAAGCATGTGAGGCCAATCCAATTTGTGGTACCCACACCTGAA c.1320
F R N L A D K H V R P I Q F V V P T P E p.440
. . . . | 11 . . g.102901
AATTTGGTCACATCTGGGACACCATTTTTTTCATCTAAACAAG | GGAAGAAGACTTGGAGA c.1380
N L V T S G T P F F S S K Q G | K K T W R p.460
. . | 12 . . . . g.105482
CAAAATCAGAGCAACTTAAAA | ATTGAAGTGGTGCCTGATTGTCAGGAGAAGAGAAGTTCT c.1440
Q N Q S N L K | I E V V P D C Q E K R S S p.480
. . . . . | 13 . g.107453
GGTCCATCCTCCAGTTTGGACAATGGCAATAGCTTGGATGTTTTAAAGAA | CCACGTACTA c.1500
G P S S S L D N G N S L D V L K N | H V L p.500
. . . . . | 14. g.108241
AATGAACTGATACAGACTGAGAGAGTTTATGTTCGAGAACTGTATACTGTTTTGTTG | GGT c.1560
N E L I Q T E R V Y V R E L Y T V L L | G p.520
. . . . . . g.108301
TATAGAGCGGAGATGGATAATCCAGAGATGTTTGATCTTATGCCACCTCTCCTGAGAAAT c.1620
Y R A E M D N P E M F D L M P P L L R N p.540
. . . . . | 15 . g.108479
AAAAAGGACATTCTCTTTGGAAACATGGCAGAAATATATGAATTCCATAACGA | CATTTTC c.1680
K K D I L F G N M A E I Y E F H N D | I F p.560
. . . . . . g.108539
TTGAGCAGCCTGGAAAATTGTGCTCATGCTCCAGAAAGAGTGGGACCTTGTTTCCTGGAA c.1740
L S S L E N C A H A P E R V G P C F L E p.580
| 16 . . . . . . g.110781
AGG | AAGGATGATTTTCAGATGTATGCAAAATATTGTCAGAATAAGCCCAGATCAGAAACA c.1800
R | K D D F Q M Y A K Y C Q N K P R S E T p.600
. . . | 17 . . . g.114748
ATTTGGAGGAAGTATTCAGAATGCGCATTTTTCCAG | GAATGTCAAAGAAAGTTAAAACAC c.1860
I W R K Y S E C A F F Q | E C Q R K L K H p.620
. . . . . . g.114808
AGACTTAGACTGGATTCCTATTTACTCAAACCAGTGCAACGAATCACTAAATATCAGTTA c.1920
R L R L D S Y L L K P V Q R I T K Y Q L p.640
| 18 . . . . . g.115688
TTGTTGAAG | GAGCTATTAAAATATAGCAAAGACTGTGAAGGATCTGCTCTGTTGAAGAAG c.1980
L L K | E L L K Y S K D C E G S A L L K K p.660
. . . . . . g.115748
GCACTCGATGCAATGCTGGATTTACTGAAGTCAGTTAATGATTCTATGCATCAGATTGCA c.2040
A L D A M L D L L K S V N D S M H Q I A p.680
. | 19 . . . . . g.116497
ATAAATGGCTATATT | GGAAACTTAAATGAACTGGGCAAGATGATAATGCAAGGTGGATTC c.2100
I N G Y I | G N L N E L G K M I M Q G G F p.700
. . . . . . g.116557
AGCGTTTGGATAGGGCACAAGAAAGGTGCTACAAAAATGAAGGATTTGGCTAGATTCAAA c.2160
S V W I G H K K G A T K M K D L A R F K p.720
. . . . . . g.116617
CCAATGCAGCGACACCTTTTCTTGTATGAAAAAGCCATTGTTTTTTGCAAAAGGCGTGTT c.2220
P M Q R H L F L Y E K A I V F C K R R V p.740
. . . . . | 20. g.123298
GAAAGTGGAGAAGGCTCTGACAGATACCCGTCATACAGTTTTAAACACTGTTGGAAA | ATG c.2280
E S G E G S D R Y P S Y S F K H C W K | M p.760
. . . . . . g.123358
GATGAAGTTGGAATCACTGAATATGTAAAAGGTGATAACCGCAAGTTTGAAATCTGGTAT c.2340
D E V G I T E Y V K G D N R K F E I W Y p.780
. . . | 21 . . . g.124814
GGTGAAAAGGAAGAAGTTTATATTGTCCAG | GCTTCTAATGTAGATGTGAAGATGACGTGG c.2400
G E K E E V Y I V Q | A S N V D V K M T W p.800
. . . . | 22 . g.125445
CTAAAAGAAATAAGAAATATTTTGTTGAAGCAGCAGGAACTTTTGACAG | TTAAAAAAAGA c.2460
L K E I R N I L L K Q Q E L L T V | K K R p.820
. . . . . . g.125505
AAGCAACAGGATCAATTAACAGAACGGGATAAGTTTCAGATTTCTCTTCAGCAGAATGAT c.2520
K Q Q D Q L T E R D K F Q I S L Q Q N D p.840
| 23 . . . . . . g.126793
GA | AAAGCAACAGGGAGCTTTTATAAGTACTGAGGAAACTGAATTGGAACACACCAGCACT c.2580
E | K Q Q G A F I S T E E T E L E H T S T p.860
. . . . . | 24 . g.128052
GTGGTGGAGGTCTGTGAGGCAATTGCGTCAGTTCAGGCAGAAGCAAATACAG | TTTGGACT c.2640
V V E V C E A I A S V Q A E A N T V | W T p.880
. . . . . . g.128112
GAGGCATCACAATCTGCAGAAATCTCTGAAGAACCTGCGGAATGGTCAAGCAACTATTTC c.2700
E A S Q S A E I S E E P A E W S S N Y F p.900
. . . . | 25 . . g.130734
TACCCTACTTATGATGAAAATGAAGAAGAAAATAGGCCCCTCATG | AGACCTGTGTCGGAG c.2760
Y P T Y D E N E E E N R P L M | R P V S E p.920
. g.130752
ATGGCTCTCCTATATTGA c.2778
M A L L Y X p.925
. . . . . . g.130812
tgaagctactatgtcaaatggcaagtagctctttcctgcctgcttctcagctcatttgga c.*60
. . . . . . g.130872
aaaatactgcgcaaaagacattgagctcaaatgatgcagatgttgttttcaggttaatgg c.*120
. . . . . . g.130932
acacgcaaagaaaccacagcacatacttcttttctttcatttaataaagcttttaattat c.*180
. . . . . . g.130992
ggtacgctgtctttttaaaatcatgtatttaatgtgtcagatattgtgcttgaaagattc c.*240
. . . . . . g.131052
tcatctcagaatacttttggacttgaaaattatttcttctctactttgtaaccaaatgca c.*300
. . . . . . g.131112
atcggtgtgccttggattatttagtttattaatgaattaagtcaaaattacggctgcaaa c.*360
. . . . . . g.131172
atggctaaggtcaagtaaagcacaacattatgatttaatatgcttttgttgaaaccacag c.*420
. . . . . . g.131232
cttttgtgcccattgttttaacttgtgtgaaacaatacaaagcccagaaattcttttcgg c.*480
. . . . . . g.131292
ggcatgagtaaattttgttcagggctactgtctgtatgtgcccagataaaattttcatga c.*540
. . . . . . g.131352
gagtagtttacaaaagccgtatttaaaagttaatattttcacactttttttctggatttc c.*600
. . . . . . g.131412
tgcttataattaatgtaacttaaattagttgtgctctgctattttctgtatatttcatgt c.*660
. . . . g.131452
tgtaattctttttttcaaataaaaattaattcttcaggtt c.*700
(downstream sequence)
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