(used for variant description)
(last modified July 19, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001005862.1 in the ERBB2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007503.1, covering ERBB2 transcript NM_001005862.1.
(upstream sequence)
. . . . g.5040
gttcccggatttttgtgggcgcctgccccgcccctcgtcc c.-481
. . . . . . g.5100
ccctgctgtgtccatatatcgaggcgatagggttaagggaaggcggacgcctgatgggtt c.-421
. . . . | 02 . g.5577
aatgagcaaactgaagtgttttccatgatcttttttgag | tcgcaattgaagtaccacctc c.-361
. . . . . . g.5637
ccgagggtgattgcttccccatgcggggtagaacctttgctgtcctgttcaccactctac c.-301
. . . | 03 . . . g.10157
ctccagcacagaatttggcttatg | cctactcaatgtgaagatgatgaggatgaaaacctt c.-241
. . . | 04 . . g.11879
tgtgatgatccacttccacttaatgaatg | gtggcaaagcaaagctatattcaagaccaca c.-181
. . . . . . g.11939
tgcaaagctactccctgagcaaagagtcacagataaaacgggggcaccagtagaatggcc c.-121
. . . . . . g.11999
aggacaaacgcagtgcagcacagagactcagaccctggcagccatgcctgcgcaggcagt c.-61
. . . . . | 05 . g.23867
gatgagagtgacatgtactgttgtggacatgcacaaaagtgag | tgtgcaccggcacagac c.-1
. . . . . . g.23927
ATGAAGCTGCGGCTCCCTGCCAGTCCCGAGACCCACCTGGACATGCTCCGCCACCTCTAC c.60
M K L R L P A S P E T H L D M L R H L Y p.20
. . . . . . g.23987
CAGGGCTGCCAGGTGGTGCAGGGAAACCTGGAACTCACCTACCTGCCCACCAATGCCAGC c.120
Q G C Q V V Q G N L E L T Y L P T N A S p.40
. | 06 . . . . . g.25226
CTGTCCTTCCTGCAG | GATATCCAGGAGGTGCAGGGCTACGTGCTCATCGCTCACAACCAA c.180
L S F L Q | D I Q E V Q G Y V L I A H N Q p.60
. . . . . . g.25286
GTGAGGCAGGTCCCACTGCAGAGGCTGCGGATTGTGCGAGGCACCCAGCTCTTTGAGGAC c.240
V R Q V P L Q R L R I V R G T Q L F E D p.80
. . . . . . g.25346
AACTATGCCCTGGCCGTGCTAGACAATGGAGACCCGCTGAACAATACCACCCCTGTCACA c.300
N Y A L A V L D N G D P L N N T T P V T p.100
. . . . | 07 . g.26189
GGGGCCTCCCCAGGAGGCCTGCGGGAGCTGCAGCTTCGAAGCCTCACAG | AGATCTTGAAA c.360
G A S P G G L R E L Q L R S L T E | I L K p.120
. . . . . . g.26249
GGAGGGGTCTTGATCCAGCGGAACCCCCAGCTCTGCTACCAGGACACGATTTTGTGGAAG c.420
G G V L I Q R N P Q L C Y Q D T I L W K p.140
. . . . . . g.26309
GACATCTTCCACAAGAACAACCAGCTGGCTCTCACACTGATAGACACCAACCGCTCTCGG c.480
D I F H K N N Q L A L T L I D T N R S R p.160
| 08 . . . . . . g.26729
GCCT | GCCACCCCTGTTCTCCGATGTGTAAGGGCTCCCGCTGCTGGGGAGAGAGTTCTGAG c.540
A C | H P C S P M C K G S R C W G E S S E p.180
. | 09 . . . . . g.26993
GATTGTCAGAGCC | TGACGCGCACTGTCTGTGCCGGTGGCTGTGCCCGCTGCAAGGGGCCA c.600
D C Q S L | T R T V C A G G C A R C K G P p.200
. . . . . . g.27053
CTGCCCACTGACTGCTGCCATGAGCAGTGTGCTGCCGGCTGCACGGGCCCCAAGCACTCT c.660
L P T D C C H E Q C A A G C T G P K H S p.220
| 10 . . . . . g.27251
GACTGCCTG | GCCTGCCTCCACTTCAACCACAGTGGCATCTGTGAGCTGCACTGCCCAGCC c.720
D C L | A C L H F N H S G I C E L H C P A p.240
. . . . . . g.27311
CTGGTCACCTACAACACAGACACGTTTGAGTCCATGCCCAATCCCGAGGGCCGGTATACA c.780
L V T Y N T D T F E S M P N P E G R Y T p.260
. . . | 11 . . . g.28817
TTCGGCGCCAGCTGTGTGACTGCCTGTCCCT | ACAACTACCTTTCTACGGACGTGGGATCC c.840
F G A S C V T A C P Y | N Y L S T D V G S p.280
. . . . . . g.28877
TGCACCCTCGTCTGCCCCCTGCACAACCAAGAGGTGACAGCAGAGGATGGAACACAGCGG c.900
C T L V C P L H N Q E V T A E D G T Q R p.300
. . . | 12 . . . g.29211
TGTGAGAAGTGCAGCAAGCCCTGTGCCCGAG | TGTGCTATGGTCTGGGCATGGAGCACTTG c.960
C E K C S K P C A R V | C Y G L G M E H L p.320
. . . . . . g.29271
CGAGAGGTGAGGGCAGTTACCAGTGCCAATATCCAGGAGTTTGCTGGCTGCAAGAAGATC c.1020
R E V R A V T S A N I Q E F A G C K K I p.340
. . . | 13 . . g.32168
TTTGGGAGCCTGGCATTTCTGCCGGAGAGCTTTGATGG | GGACCCAGCCTCCAACACTGCC c.1080
F G S L A F L P E S F D G | D P A S N T A p.360
. . . . . | 14 . g.32314
CCGCTCCAGCCAGAGCAGCTCCAAGTGTTTGAGACTCTGGAAGAGATCACAG | GTTACCTA c.1140
P L Q P E Q L Q V F E T L E E I T G | Y L p.380
. . . . . . g.32374
TACATCTCAGCATGGCCGGACAGCCTGCCTGACCTCAGCGTCTTCCAGAACCTGCAAGTA c.1200
Y I S A W P D S L P D L S V F Q N L Q V p.400
. . | 15 . . . . g.32637
ATCCGGGGACGAATTCTGCACAA | TGGCGCCTACTCGCTGACCCTGCAAGGGCTGGGCATC c.1260
I R G R I L H N | G A Y S L T L Q G L G I p.420
. . . . . . g.32697
AGCTGGCTGGGGCTGCGCTCACTGAGGGAACTGGGCAGTGGACTGGCCCTCATCCACCAT c.1320
S W L G L R S L R E L G S G L A L I H H p.440
. . . . . . g.32757
AACACCCACCTCTGCTTCGTGCACACGGTGCCCTGGGACCAGCTCTTTCGGAACCCGCAC c.1380
N T H L C F V H T V P W D Q L F R N P H p.460
. . . . | 16 . . g.33178
CAAGCTCTGCTCCACACTGCCAACCGGCCAGAGGACGAGTGTG | TGGGCGAGGGCCTGGCC c.1440
Q A L L H T A N R P E D E C V | G E G L A p.480
. . . . . . g.33238
TGCCACCAGCTGTGCGCCCGAGGGCACTGCTGGGGTCCAGGGCCCACCCAGTGTGTCAAC c.1500
C H Q L C A R G H C W G P G P T Q C V N p.500
. . . . . | 17 . g.33379
TGCAGCCAGTTCCTTCGGGGCCAGGAGTGCGTGGAGGAATGCCGAGTACTGCAGGG | GCTC c.1560
C S Q F L R G Q E C V E E C R V L Q G | L p.520
. . . . . . g.33439
CCCAGGGAGTATGTGAATGCCAGGCACTGTTTGCCGTGCCACCCTGAGTGTCAGCCCCAG c.1620
P R E Y V N A R H C L P C H P E C Q P Q p.540
. . | 18. . . . g.34213
AATGGCTCAGTGACCTGTTTTGGACCG | GAGGCTGACCAGTGTGTGGCCTGTGCCCACTAT c.1680
N G S V T C F G P | E A D Q C V A C A H Y p.560
. . . . . . g.34273
AAGGACCCTCCCTTCTGCGTGGCCCGCTGCCCCAGCGGTGTGAAACCTGACCTCTCCTAC c.1740
K D P P F C V A R C P S G V K P D L S Y p.580
. . . . . . g.34333
ATGCCCATCTGGAAGTTTCCAGATGAGGAGGGCGCATGCCAGCCTTGCCCCATCAACTGC c.1800
M P I W K F P D E E G A C Q P C P I N C p.600
| 19 . . . . | 20 . g.40183
ACCCACTC | CTGTGTGGACCTGGATGACAAGGGCTGCCCCGCCGAGCAGAGAGCCAG | CCCT c.1860
T H S | C V D L D D K G C P A E Q R A S | P p.620
. . . . . . g.40243
CTGACGTCCATCATCTCTGCGGTGGTTGGCATTCTGCTGGTCGTGGTCTTGGGGGTGGTC c.1920
L T S I I S A V V G I L L V V V L G V V p.640
. . . . . . g.40303
TTTGGGATCCTCATCAAGCGACGGCAGCAGAAGATCCGGAAGTACACGATGCGGAGACTG c.1980
F G I L I K R R Q Q K I R K Y T M R R L p.660
. | 21 . . . . . g.40443
CTGCAGGAAACGGAG | CTGGTGGAGCCGCTGACACCTAGCGGAGCGATGCCCAACCAGGCG c.2040
L Q E T E | L V E P L T P S G A M P N Q A p.680
. . . . . . g.40503
CAGATGCGGATCCTGAAAGAGACGGAGCTGAGGAAGGTGAAGGTGCTTGGATCTGGCGCT c.2100
Q M R I L K E T E L R K V K V L G S G A p.700
. | 22 . . . . g.40814
TTTGGCACAGTCTACAAG | GGCATCTGGATCCCTGATGGGGAGAATGTGAAAATTCCAGTG c.2160
F G T V Y K | G I W I P D G E N V K I P V p.720
. . . . . | 23. g.41589
GCCATCAAAGTGTTGAGGGAAAACACATCCCCCAAAGCCAACAAAGAAATCTTAGAC | GAA c.2220
A I K V L R E N T S P K A N K E I L D | E p.740
. . . . . . g.41649
GCATACGTGATGGCTGGTGTGGGCTCCCCATATGTCTCCCGCCTTCTGGGCATCTGCCTG c.2280
A Y V M A G V G S P Y V S R L L G I C L p.760
. . . . . . g.41709
ACATCCACGGTGCAGCTGGTGACACAGCTTATGCCCTATGGCTGCCTCTTAGACCATGTC c.2340
T S T V Q L V T Q L M P Y G C L L D H V p.780
. . . . . . g.41769
CGGGAAAACCGCGGACGCCTGGGCTCCCAGGACCTGCTGAACTGGTGTATGCAGATTGCC c.2400
R E N R G R L G S Q D L L N W C M Q I A p.800
| 24 . . . . . . g.41966
AAG | GGGATGAGCTACCTGGAGGATGTGCGGCTCGTACACAGGGACTTGGCCGCTCGGAAC c.2460
K | G M S Y L E D V R L V H R D L A A R N p.820
. . . . . . g.42026
GTGCTGGTCAAGAGTCCCAACCATGTCAAAATTACAGACTTCGGGCTGGCTCGGCTGCTG c.2520
V L V K S P N H V K I T D F G L A R L L p.840
. . . | 25 . . g.42208
GACATTGACGAGACAGAGTACCATGCAGATGGGGGCAAG | GTGCCCATCAAGTGGATGGCG c.2580
D I D E T E Y H A D G G K | V P I K W M A p.860
. . . . . | 26 . g.42572
CTGGAGTCCATTCTCCGCCGGCGGTTCACCCACCAGAGTGATGTGTGGAGTTATG | GTGTG c.2640
L E S I L R R R F T H Q S D V W S Y G | V p.880
. . . . . . g.42632
ACTGTGTGGGAGCTGATGACTTTTGGGGCCAAACCTTACGATGGGATCCCAGCCCGGGAG c.2700
T V W E L M T F G A K P Y D G I P A R E p.900
. . . . . . g.42692
ATCCCTGACCTGCTGGAAAAGGGGGAGCGGCTGCCCCAGCCCCCCATCTGCACCATTGAT c.2760
I P D L L E K G E R L P Q P P I C T I D p.920
. . | 27 . . . . g.43460
GTCTACATGATCATGGTCAAAT | GTTGGATGATTGACTCTGAATGTCGGCCAAGATTCCGG c.2820
V Y M I M V K C | W M I D S E C R P R F R p.940
. . . . . . g.43520
GAGTTGGTGTCTGAATTCTCCCGCATGGCCAGGGACCCCCAGCGCTTTGTGGTCATCCAG c.2880
E L V S E F S R M A R D P Q R F V V I Q p.960
| 28 . . . . . . g.43735
| AATGAGGACTTGGGCCCAGCCAGTCCCTTGGACAGCACCTTCTACCGCTCACTGCTGGAG c.2940
| N E D L G P A S P L D S T F Y R S L L E p.980
. . . . . . g.43795
GACGATGACATGGGGGACCTGGTGGATGCTGAGGAGTATCTGGTACCCCAGCAGGGCTTC c.3000
D D D M G D L V D A E E Y L V P Q Q G F p.1000
. . . . . . g.43855
TTCTGTCCAGACCCTGCCCCGGGCGCTGGGGGCATGGTCCACCACAGGCACCGCAGCTCA c.3060
F C P D P A P G A G G M V H H R H R S S p.1020
| 29 . . . . . g.44206
TCTACCAGG | AGTGGCGGTGGGGACCTGACACTAGGGCTGGAGCCCTCTGAAGAGGAGGCC c.3120
S T R | S G G G D L T L G L E P S E E E A p.1040
. . . . . . g.44266
CCCAGGTCTCCACTGGCACCCTCCGAAGGGGCTGGCTCCGATGTATTTGATGGTGACCTG c.3180
P R S P L A P S E G A G S D V F D G D L p.1060
. . . . . . g.44326
GGAATGGGGGCAGCCAAGGGGCTGCAAAGCCTCCCCACACATGACCCCAGCCCTCTACAG c.3240
G M G A A K G L Q S L P T H D P S P L Q p.1080
. . . . . . g.44386
CGGTACAGTGAGGACCCCACAGTACCCCTGCCCTCTGAGACTGATGGCTACGTTGCCCCC c.3300
R Y S E D P T V P L P S E T D G Y V A P p.1100
. . | 30 . . . . g.44587
CTGACCTGCAGCCCCCAGCCTG | AATATGTGAACCAGCCAGATGTTCGGCCCCAGCCCCCT c.3360
L T C S P Q P E | Y V N Q P D V R P Q P P p.1120
. . . . . . g.44647
TCGCCCCGAGAGGGCCCTCTGCCTGCTGCCCGACCTGCTGGTGCCACTCTGGAAAGGCCC c.3420
S P R E G P L P A A R P A G A T L E R P p.1140
. . . . . . g.44707
AAGACTCTCTCCCCAGGGAAGAATGGGGTCGTCAAAGACGTTTTTGCCTTTGGGGGTGCC c.3480
K T L S P G K N G V V K D V F A F G G A p.1160
. . . . . . g.44767
GTGGAGAACCCCGAGTACTTGACACCCCAGGGAGGAGCTGCCCCTCAGCCCCACCCTCCT c.3540
V E N P E Y L T P Q G G A A P Q P H P P p.1180
. . . . . . g.44827
CCTGCCTTCAGCCCAGCCTTCGACAACCTCTATTACTGGGACCAGGACCCACCAGAGCGG c.3600
P A F S P A F D N L Y Y W D Q D P P E R p.1200
. . . . . . g.44887
GGGGCTCCACCCAGCACCTTCAAAGGGACACCTACGGCAGAGAACCCAGAGTACCTGGGT c.3660
G A P P S T F K G T P T A E N P E Y L G p.1220
. g.44905
CTGGACGTGCCAGTGTGA c.3678
L D V P V X p.1225
. . . . . . g.44965
accagaaggccaagtccgcagaagccctgatgtgtcctcagggagcagggaaggcctgac c.*60
. . . . . . g.45025
ttctgctggcatcaagaggtgggagggccctccgaccacttccaggggaacctgccatgc c.*120
. . . . . . g.45085
caggaacctgtcctaaggaaccttccttcctgcttgagttcccagatggctggaaggggt c.*180
. . . . . . g.45145
ccagcctcgttggaagaggaacagcactggggagtctttgtggattctgaggccctgccc c.*240
. . . . . . g.45205
aatgagactctagggtccagtggatgccacagcccagcttggccctttccttccagatcc c.*300
. . . . . . g.45265
tgggtactgaaagccttagggaagctggcctgagaggggaagcggccctaagggagtgtc c.*360
. . . . . . g.45325
taagaacaaaagcgacccattcagagactgtccctgaaacctagtactgccccccatgag c.*420
. . . . . . g.45385
gaaggaacagcaatggtgtcagtatccaggctttgtacagagtgcttttctgtttagttt c.*480
. . . . . . g.45445
ttactttttttgttttgtttttttaaagatgaaataaagacccagggggagaatgggtgt c.*540
. . . . . . g.45505
tgtatggggaggcaagtgtggggggtccttctccacacccactttgtccatttgcaaata c.*600
. g.45523
tattttggaaaacagcta c.*618
(downstream sequence)
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