Canonical Allele Identifier: CA8534559

Gene: ERBB2

Linked Data

• ClinVar Variation Id: 1041144
• ClinVar RCV Id: RCV001344903
• dbSNP Id: rs138611862
• ExAC: 17:37883959 G / C
• gnomAD v2: 17-37883959-G-C
• gnomAD v3: 17-39727706-G-C
• gnomAD v4: 17-39727706-G-C
• MyVariant Identifiers: chr17:g.37883959G>C (hg19) ; chr17:g.39727706G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727706G>C , CM000679.2:g.39727706G>C	GRCh38
NC_000017.10:g.37883959G>C , CM000679.1:g.37883959G>C	GRCh37
NC_000017.9:g.35137485G>C	NCBI36
NG_007503.1:g.44567G>C , LRG_724:g.44567G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269571.10:c.3430G>C MANE Select	ENSP00000269571.4:p.Asp1144His
ENST00000269571.9:c.3430G>C	ENSP00000269571.4:p.Asp1144His
ENST00000406381.6:c.3340G>C	ENSP00000385185.2:p.Asp1114His
ENST00000445658.6:c.2602G>C	ENSP00000404047.2:p.Asp868His
ENST00000541774.5:c.3385G>C	ENSP00000446466.1:p.Asp1129His
ENST00000578373.5:c.*3220G>C	ENSP00000463427.1:n.*3220G>C
ENST00000584450.5:c.*9G>C	ENSP00000463714.1:n.*9G>C
ENST00000584601.5:c.3340G>C	ENSP00000462438.1:p.Asp1114His
NM_001005862.2:c.3340G>C , LRG_724t1:c.3340G>C	NP_001005862.1:p.Asp1114His
NM_001289936.1:c.3385G>C , LRG_724t4:c.3385G>C	NP_001276865.1:p.Asp1129His
NM_001289937.1:c.*9G>C	NP_001276866.1:n.*9G>C
NM_004448.3:c.3430G>C , LRG_724t2:c.3430G>C	NP_004439.2:p.Asp1144His
NR_110535.1:n.3754G>C
XM_024450641.1:c.3568G>C	XP_024306409.1:p.Asp1190His
XM_024450642.1:c.3523G>C	XP_024306410.1:p.Asp1175His
XM_024450643.1:c.3478G>C	XP_024306411.1:p.Asp1160His
NM_001005862.3:c.3340G>C	NP_001005862.1:p.Asp1114His
NM_001289936.2:c.3385G>C	NP_001276865.1:p.Asp1129His
NM_001289937.2:c.*9G>C	NP_001276866.1:n.*9G>C
NM_001382782.1:c.3340G>C	NP_001369711.1:p.Asp1114His
NM_001382783.1:c.3340G>C	NP_001369712.1:p.Asp1114His
NM_001382784.1:c.3547G>C	NP_001369713.1:p.Asp1183His
NM_001382785.1:c.3532G>C	NP_001369714.1:p.Asp1178His
NM_001382786.1:c.3511G>C	NP_001369715.1:p.Asp1171His
NM_001382787.1:c.3505G>C	NP_001369716.1:p.Asp1169His
NM_001382788.1:c.3460G>C	NP_001369717.1:p.Asp1154His
NM_001382789.1:c.3451G>C	NP_001369718.1:p.Asp1151His
NM_001382790.1:c.3427G>C	NP_001369719.1:p.Asp1143His
NM_001382791.1:c.3421G>C	NP_001369720.1:p.Asp1141His
NM_001382792.1:c.3394G>C	NP_001369721.1:p.Asp1132His
NM_001382793.1:c.3388G>C	NP_001369722.1:p.Asp1130His
NM_001382794.1:c.3388G>C	NP_001369723.1:p.Asp1130His
NM_001382795.1:c.3382G>C	NP_001369724.1:p.Asp1128His
NM_001382796.1:c.3343G>C	NP_001369725.1:p.Asp1115His
NM_001382797.1:c.3331G>C	NP_001369726.1:p.Asp1111His
NM_001382798.1:c.3274G>C	NP_001369727.1:p.Asp1092His
NM_001382799.1:c.3250G>C	NP_001369728.1:p.Asp1084His
NM_001382800.1:c.3244G>C	NP_001369729.1:p.Asp1082His
NM_001382801.1:c.3226G>C	NP_001369730.1:p.Asp1076His
NM_001382802.1:c.3172G>C	NP_001369731.1:p.Asp1058His
NM_001382803.1:c.*9G>C	NP_001369732.1:n.*9G>C
NM_001382804.1:c.2602G>C	NP_001369733.1:p.Asp868His
NM_001382805.1:c.2479G>C	NP_001369734.1:p.Asp827His
NM_001382806.1:c.2392G>C	NP_001369735.1:p.Asp798His
NM_004448.4:c.3430G>C MANE Select	NP_004439.2:p.Asp1144His
NR_110535.2:n.3668G>C