(used for variant description)
(last modified September 28, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_004766.2 in the COPB2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering COPB2 transcript NM_004766.2.
(upstream sequence)
. g.5010
gactatcgcg c.-121
. . . . . . g.5070
agaatcggctcccggaagttccacgtcagtcagtctgacggtcagtggatcggtgggttt c.-61
. . . . . . g.5130
atctcaaggcctgagtagccggtaacaaacgagggttcccgggattggaccgacgcagcc c.-1
| 02 . . . . . . g.11302
ATG | CCTCTGCGACTTGATATCAAAAGAAAGCTAACTGCTAGATCTGATCGAGTTAAGAGT c.60
M | P L R L D I K R K L T A R S D R V K S p.20
. . . . . . g.11362
GTGGATCTGCATCCTACAGAGCCATGGATGTTGGCAAGTCTTTACAATGGCAGTGTGTGT c.120
V D L H P T E P W M L A S L Y N G S V C p.40
. . | 03 . . . . g.15253
GTTTGGAATCATGAAACACAG | ACACTGGTGAAGACATTTGAAGTATGTGATCTTCCTGTT c.180
V W N H E T Q | T L V K T F E V C D L P V p.60
. . . . | 04 . g.15519
CGAGCTGCAAAGTTTGTTGCAAGGAAGAATTGGGTTGTGACAGGAGCG | GATGACATGCAG c.240
R A A K F V A R K N W V V T G A | D D M Q p.80
. . . . . . g.15579
ATTAGAGTGTTCAATTACAATACTCTGGAGAGAGTTCATATGTTTGAAGCACACTCAGAC c.300
I R V F N Y N T L E R V H M F E A H S D p.100
. . . . . | 05 . g.16496
TACATTCGCTGTATTGCTGTTCATCCAACCCAGCCTTTCATTCTAACTAGCAGTG | ATGAC c.360
Y I R C I A V H P T Q P F I L T S S D | D p.120
. . . . . . g.16556
ATGCTTATTAAGCTCTGGGACTGGGATAAAAAATGGTCTTGCTCACAAGTGTTTGAAGGA c.420
M L I K L W D W D K K W S C S Q V F E G p.140
. . . . . . g.16616
CACACCCATTATGTTATGCAGATTGTGATCAACCCCAAAGATAACAATCAGTTTGCCAGT c.480
H T H Y V M Q I V I N P K D N N Q F A S p.160
. . | 06 . . . . g.19102
GCCTCTTTGGACAGGACTATCAAG | GTGTGGCAGTTGGGCTCTTCGTCACCAAACTTCACT c.540
A S L D R T I K | V W Q L G S S S P N F T p.180
. . . . . . g.19162
TTGGAAGGACATGAGAAAGGCGTGAATTGCATTGATTACTACAGTGGTGGGGACAAGCCA c.600
L E G H E K G V N C I D Y Y S G G D K P p.200
. . . . . | 07 . g.20101
TACCTCATTTCAGGTGCAGATGACCGTCTTGTTAAAATATGGGATTATCAG | AATAAAACA c.660
Y L I S G A D D R L V K I W D Y Q | N K T p.220
. . . . . . g.20161
TGTGTGCAGACACTGGAAGGACATGCCCAAAATGTGTCTTGTGCCAGCTTTCATCCTGAG c.720
C V Q T L E G H A Q N V S C A S F H P E p.240
. . . | 08 . . . g.20901
TTGCCAATCATTATCACAGGTTCAGAAGATG | GAACAGTACGTATTTGGCATTCAAGCACC c.780
L P I I I T G S E D G | T V R I W H S S T p.260
. . . . . . g.20961
TACCGGCTTGAGAGCACACTGAATTATGGAATGGAGAGGGTATGGTGCGTGGCCAGTCTA c.840
Y R L E S T L N Y G M E R V W C V A S L p.280
. . . . . | 09 . g.21274
AGAGGGTCAAACAATGTCGCTTTGGGCTATGATGAAGGGAGCATCATTGTTAAG | CTTGGT c.900
R G S N N V A L G Y D E G S I I V K | L G p.300
. . . . . . g.21334
CGGGAGGAACCTGCCATGTCCATGGATGCCAATGGAAAGATAATTTGGGCCAAGCATTCA c.960
R E E P A M S M D A N G K I I W A K H S p.320
. . . . . . g.21394
GAAGTCCAGCAGGCCAACCTAAAAGCAATGGGAGATGCTGAAATTAAAGATGGTGAAAGA c.1020
E V Q Q A N L K A M G D A E I K D G E R p.340
. . . . . . g.21454
TTGCCACTGGCAGTAAAGGATATGGGCAGTTGTGAAATATACCCTCAGACTATTCAGCAC c.1080
L P L A V K D M G S C E I Y P Q T I Q H p.360
. | 10 . . . . . g.22893
AATCCTAATGGGCG | GTTTGTGGTGGTGTGTGGTGATGGGGAGTATATCATCTACACAGCA c.1140
N P N G R | F V V V C G D G E Y I I Y T A p.380
. . . . . . g.22953
ATGGCATTGAGAAACAAGAGCTTTGGATCTGCTCAGGAGTTTGCATGGGCCCACGATTCT c.1200
M A L R N K S F G S A Q E F A W A H D S p.400
| 11 . . . . . . g.25191
TCAGA | GTATGCAATAAGAGAGAGCAACAGCATTGTAAAGATATTTAAGAACTTTAAGGAA c.1260
S E | Y A I R E S N S I V K I F K N F K E p.420
. . . | 12 . . . g.25339
AAAAAATCATTTAAACCAGATTTTGGAGCAGAAA | GTATCTACGGCGGCTTCTTATTGGGA c.1320
K K S F K P D F G A E S | I Y G G F L L G p.440
. . . . . . g.25399
GTCAGATCTGTAAATGGCTTAGCCTTCTATGACTGGGACAATACAGAACTCATACGAAGA c.1380
V R S V N G L A F Y D W D N T E L I R R p.460
. . | 13 . . . . g.26431
ATTGAAATTCAGCCCAAACAT | ATTTTCTGGTCTGACTCTGGAGAGCTAGTCTGTATTGCT c.1440
I E I Q P K H | I F W S D S G E L V C I A p.480
. . . . . . g.26491
ACTGAGGAATCATTTTTTATCCTTAAGTATCTGTCAGAAAAAGTCTTGGCTGCACAGGAA c.1500
T E E S F F I L K Y L S E K V L A A Q E p.500
. . . . | 14 . . g.27550
ACACATGAGGGAGTTACTGAAGATGGCATTGAAGATGCCTTTGAG | GTTCTTGGTGAGATT c.1560
T H E G V T E D G I E D A F E | V L G E I p.520
. . . . . . g.27610
CAGGAAATTGTGAAAACAGGGCTTTGGGTAGGCGATTGCTTCATTTACACAAGTTCTGTG c.1620
Q E I V K T G L W V G D C F I Y T S S V p.540
. . . . . | 15 . g.27909
AACAGATTAAATTATTATGTTGGAGGAGAAATAGTCACCATTGCCCACTTGGACAG | GACG c.1680
N R L N Y Y V G G E I V T I A H L D R | T p.560
. . . . . . g.27969
ATGTATCTCCTAGGCTACATTCCTAAAGACAACAGGCTTTATCTGGGGGATAAAGAATTG c.1740
M Y L L G Y I P K D N R L Y L G D K E L p.580
. . . . . . g.28029
AACATCATTAGCTATTCCCTGCTGGTTTCAGTCCTGGAATACCAGACAGCTGTCATGCGG c.1800
N I I S Y S L L V S V L E Y Q T A V M R p.600
. . . . . . g.28089
AGGGACTTTAGCATGGCTGATAAGGTCCTTCCTACCATTCCAAAAGAACAGAGGACCAGA c.1860
R D F S M A D K V L P T I P K E Q R T R p.620
. . | 16 . . . . g.32199
GTTGCACACTTTTTGGAAAAGCAG | GGCTTCAAGCAGCAAGCTCTTACAGTATCCACAGAT c.1920
V A H F L E K Q | G F K Q Q A L T V S T D p.640
. . . . . . g.32259
CCTGAGCATCGTTTTGAGCTTGCTCTTCAGCTTGGAGAGTTAAAAATTGCATACCAGTTA c.1980
P E H R F E L A L Q L G E L K I A Y Q L p.660
. | 17 . . . . . g.33430
GCAGTGGAAGCAGAG | TCAGAACAGAAGTGGAAACAACTTGCTGAACTTGCCATTAGTAAA c.2040
A V E A E | S E Q K W K Q L A E L A I S K p.680
. . . . . . g.33490
TGTCAGTTTGGCCTAGCCCAGGAGTGCCTGCATCATGCACAGGATTATGGGGGCCTGCTG c.2100
C Q F G L A Q E C L H H A Q D Y G G L L p.700
. . . . . . g.33550
CTTTTGGCCACTGCCTCTGGAAATGCTAATATGGTGAACAAGCTAGCAGAGGGTGCGGAG c.2160
L L A T A S G N A N M V N K L A E G A E p.720
. . . . . | 18 . g.35328
AGAGATGGCAAAAATAATGTGGCATTCATGAGCTACTTTTTACAGGGCAA | GGTTGATGCC c.2220
R D G K N N V A F M S Y F L Q G K | V D A p.740
. . . . . . g.35388
TGCCTAGAGCTCTTAATTAGAACTGGACGGCTGCCAGAAGCTGCCTTCTTGGCCCGAACT c.2280
C L E L L I R T G R L P E A A F L A R T p.760
. . | 19 . . . . g.35539
TACTTACCCAGTCAGGTTTCAAG | GGTAGTGAAACTCTGGAGAGAGAATCTCTCAAAAGTC c.2340
Y L P S Q V S R | V V K L W R E N L S K V p.780
. . . . . . g.35599
AATCAGAAAGCAGCAGAATCCCTTGCTGACCCAACAGAGTATGAAAACCTGTTCCCTGGA c.2400
N Q K A A E S L A D P T E Y E N L F P G p.800
. . . . . . g.35659
TTAAAAGAAGCCTTTGTTGTTGAAGAATGGGTGAAGGAAACACATGCTGATCTGTGGCCA c.2460
L K E A F V V E E W V K E T H A D L W P p.820
. . | 20 . . . . g.35904
GCCAAACAATACCCACTTGTCACG | CCAAATGAAGAGAGAAATGTCATGGAAGAGGGAAAA c.2520
A K Q Y P L V T | P N E E R N V M E E G K p.840
. . . | 21 . . . g.36436
GACTTTCAGCCCTCAAGATCTACAGCTCAACAG | GAACTTGATGGGAAACCTGCTTCTCCT c.2580
D F Q P S R S T A Q Q | E L D G K P A S P p.860
. . . . | 22 . . g.36737
ACTCCGGTTATTGTGGCCTCCCACACAGCCAACAAAGAAGAAAAG | AGTTTACTCGAACTA c.2640
T P V I V A S H T A N K E E K | S L L E L p.880
. . . . . . g.36797
GAAGTAGATTTGGATAATTTGGAATTAGAAGATATTGACACAACAGATATCAATCTGGAT c.2700
E V D L D N L E L E D I D T T D I N L D p.900
. . g.36818
GAAGATATTTTGGATGATTGA c.2721
E D I L D D X p.906
. . . . . . g.36878
ctgtaatgctttccatttacctgactaaacagatcattattatatataggtattgattgc c.*60
. . . . . . g.36938
taccctgaccacagtgctttggactatgagaaacttcttagatttttatatgtaaatgct c.*120
. . . . . . g.36998
gtggaccactgggagcacaatgcccacatcatcttaagaagagtttatgtgcagcattta c.*180
. . . . . . g.37058
aatcactgtgttttccttgttaactaaaacagacatgggctttgatttttttcatactat c.*240
. . . g.37090
tagaccatatctcataaaaccttttgaattaa c.*272
(downstream sequence)
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