Canonical Allele Identifier: CA290443497

Gene: ERBB2

Linked Data

• dbSNP Id: rs556924554
• MyVariant Identifiers: chr17:g.37883773G>C (hg19) ; chr17:g.39727520G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727520G>C , CM000679.2:g.39727520G>C	GRCh38
NC_000017.10:g.37883773G>C , CM000679.1:g.37883773G>C	GRCh37
NC_000017.9:g.35137299G>C	NCBI36
NG_007503.1:g.44381G>C , LRG_724:g.44381G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3385G>C MANE Select	ENSP00000269571.4:p.Ala1129Pro
ENST00000269571.9:c.3385G>C	ENSP00000269571.4:p.Ala1129Pro
ENST00000406381.6:c.3295G>C	ENSP00000385185.2:p.Ala1099Pro
ENST00000445658.6:c.2557G>C	ENSP00000404047.2:p.Ala853Pro
ENST00000541774.5:c.3340G>C	ENSP00000446466.1:p.Ala1114Pro
ENST00000578373.5:c.*3175G>C	ENSP00000463427.1:n.*3175G>C
ENST00000584450.5:c.3160-169G>C	ENSP00000463714.1:n.3160-169G>C
ENST00000584601.5:c.3295G>C	ENSP00000462438.1:p.Ala1099Pro
NM_001005862.2:c.3295G>C , LRG_724t1:c.3295G>C	NP_001005862.1:p.Ala1099Pro
NM_001289936.1:c.3340G>C , LRG_724t4:c.3340G>C	NP_001276865.1:p.Ala1114Pro
NM_001289937.1:c.3160-169G>C	NP_001276866.1:n.3160-169G>C
NM_004448.3:c.3385G>C , LRG_724t2:c.3385G>C	NP_004439.2:p.Ala1129Pro
NR_110535.1:n.3709G>C
XM_024450641.1:c.3523G>C	XP_024306409.1:p.Ala1175Pro
XM_024450642.1:c.3478G>C	XP_024306410.1:p.Ala1160Pro
XM_024450643.1:c.3433G>C	XP_024306411.1:p.Ala1145Pro
NM_001005862.3:c.3295G>C	NP_001005862.1:p.Ala1099Pro
NM_001289936.2:c.3340G>C	NP_001276865.1:p.Ala1114Pro
NM_001289937.2:c.3160-169G>C	NP_001276866.1:n.3160-169G>C
NM_001382782.1:c.3295G>C	NP_001369711.1:p.Ala1099Pro
NM_001382783.1:c.3295G>C	NP_001369712.1:p.Ala1099Pro
NM_001382784.1:c.3502G>C	NP_001369713.1:p.Ala1168Pro
NM_001382785.1:c.3487G>C	NP_001369714.1:p.Ala1163Pro
NM_001382786.1:c.3466G>C	NP_001369715.1:p.Ala1156Pro
NM_001382787.1:c.3460G>C	NP_001369716.1:p.Ala1154Pro
NM_001382788.1:c.3415G>C	NP_001369717.1:p.Ala1139Pro
NM_001382789.1:c.3406G>C	NP_001369718.1:p.Ala1136Pro
NM_001382790.1:c.3382G>C	NP_001369719.1:p.Ala1128Pro
NM_001382791.1:c.3376G>C	NP_001369720.1:p.Ala1126Pro
NM_001382792.1:c.3349G>C	NP_001369721.1:p.Ala1117Pro
NM_001382793.1:c.3343G>C	NP_001369722.1:p.Ala1115Pro
NM_001382794.1:c.3343G>C	NP_001369723.1:p.Ala1115Pro
NM_001382795.1:c.3337G>C	NP_001369724.1:p.Ala1113Pro
NM_001382796.1:c.3298G>C	NP_001369725.1:p.Ala1100Pro
NM_001382797.1:c.3286G>C	NP_001369726.1:p.Ala1096Pro
NM_001382798.1:c.3229G>C	NP_001369727.1:p.Ala1077Pro
NM_001382799.1:c.3205G>C	NP_001369728.1:p.Ala1069Pro
NM_001382800.1:c.3199G>C	NP_001369729.1:p.Ala1067Pro
NM_001382801.1:c.3181G>C	NP_001369730.1:p.Ala1061Pro
NM_001382802.1:c.3127G>C	NP_001369731.1:p.Ala1043Pro
NM_001382803.1:c.3118-169G>C	NP_001369732.1:n.3118-169G>C
NM_001382804.1:c.2557G>C	NP_001369733.1:p.Ala853Pro
NM_001382805.1:c.2434G>C	NP_001369734.1:p.Ala812Pro
NM_001382806.1:c.2347G>C	NP_001369735.1:p.Ala783Pro
NM_004448.4:c.3385G>C MANE Select	NP_004439.2:p.Ala1129Pro
NR_110535.2:n.3623G>C