Canonical Allele Identifier: CA399310640

Gene: ERBB2

Linked Data

• dbSNP Id: rs1470001386
• gnomAD v2: 17-37883654-A-C
• gnomAD v4: 17-39727401-A-C
• MyVariant Identifiers: chr17:g.37883654A>C (hg19) ; chr17:g.39727401A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727401A>C , CM000679.2:g.39727401A>C	GRCh38
NC_000017.10:g.37883654A>C , CM000679.1:g.37883654A>C	GRCh37
NC_000017.9:g.35137180A>C	NCBI36
NG_007503.1:g.44262A>C , LRG_724:g.44262A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3266A>C MANE Select	ENSP00000269571.4:p.Asp1089Ala
ENST00000269571.9:c.3266A>C	ENSP00000269571.4:p.Asp1089Ala
ENST00000406381.6:c.3176A>C	ENSP00000385185.2:p.Asp1059Ala
ENST00000445658.6:c.2438A>C	ENSP00000404047.2:p.Asp813Ala
ENST00000541774.5:c.3221A>C	ENSP00000446466.1:p.Asp1074Ala
ENST00000578373.5:c.*3056A>C	ENSP00000463427.1:n.*3056A>C
ENST00000584450.5:c.3160-288A>C	ENSP00000463714.1:n.3160-288A>C
ENST00000584601.5:c.3176A>C	ENSP00000462438.1:p.Asp1059Ala
NM_001005862.2:c.3176A>C , LRG_724t1:c.3176A>C	NP_001005862.1:p.Asp1059Ala
NM_001289936.1:c.3221A>C , LRG_724t4:c.3221A>C	NP_001276865.1:p.Asp1074Ala
NM_001289937.1:c.3160-288A>C	NP_001276866.1:n.3160-288A>C
NM_004448.3:c.3266A>C , LRG_724t2:c.3266A>C	NP_004439.2:p.Asp1089Ala
NR_110535.1:n.3590A>C
XM_024450641.1:c.3404A>C	XP_024306409.1:p.Asp1135Ala
XM_024450642.1:c.3359A>C	XP_024306410.1:p.Asp1120Ala
XM_024450643.1:c.3314A>C	XP_024306411.1:p.Asp1105Ala
NM_001005862.3:c.3176A>C	NP_001005862.1:p.Asp1059Ala
NM_001289936.2:c.3221A>C	NP_001276865.1:p.Asp1074Ala
NM_001289937.2:c.3160-288A>C	NP_001276866.1:n.3160-288A>C
NM_001382782.1:c.3176A>C	NP_001369711.1:p.Asp1059Ala
NM_001382783.1:c.3176A>C	NP_001369712.1:p.Asp1059Ala
NM_001382784.1:c.3383A>C	NP_001369713.1:p.Asp1128Ala
NM_001382785.1:c.3368A>C	NP_001369714.1:p.Asp1123Ala
NM_001382786.1:c.3347A>C	NP_001369715.1:p.Asp1116Ala
NM_001382787.1:c.3341A>C	NP_001369716.1:p.Asp1114Ala
NM_001382788.1:c.3296A>C	NP_001369717.1:p.Asp1099Ala
NM_001382789.1:c.3287A>C	NP_001369718.1:p.Asp1096Ala
NM_001382790.1:c.3263A>C	NP_001369719.1:p.Asp1088Ala
NM_001382791.1:c.3257A>C	NP_001369720.1:p.Asp1086Ala
NM_001382792.1:c.3230A>C	NP_001369721.1:p.Asp1077Ala
NM_001382793.1:c.3224A>C	NP_001369722.1:p.Asp1075Ala
NM_001382794.1:c.3224A>C	NP_001369723.1:p.Asp1075Ala
NM_001382795.1:c.3218A>C	NP_001369724.1:p.Asp1073Ala
NM_001382796.1:c.3179A>C	NP_001369725.1:p.Asp1060Ala
NM_001382797.1:c.3167A>C	NP_001369726.1:p.Asp1056Ala
NM_001382798.1:c.3110A>C	NP_001369727.1:p.Asp1037Ala
NM_001382799.1:c.3086A>C	NP_001369728.1:p.Asp1029Ala
NM_001382800.1:c.3080A>C	NP_001369729.1:p.Asp1027Ala
NM_001382801.1:c.3062A>C	NP_001369730.1:p.Asp1021Ala
NM_001382802.1:c.3008A>C	NP_001369731.1:p.Asp1003Ala
NM_001382803.1:c.3118-288A>C	NP_001369732.1:n.3118-288A>C
NM_001382804.1:c.2438A>C	NP_001369733.1:p.Asp813Ala
NM_001382805.1:c.2315A>C	NP_001369734.1:p.Asp772Ala
NM_001382806.1:c.2228A>C	NP_001369735.1:p.Asp743Ala
NM_004448.4:c.3266A>C MANE Select	NP_004439.2:p.Asp1089Ala
NR_110535.2:n.3504A>C