Canonical Allele Identifier: CA399310546

Gene: ERBB2

Linked Data

• dbSNP Id: rs1208224755
• gnomAD v2: 17-37883641-G-A
• gnomAD v4: 17-39727388-G-A
• MyVariant Identifiers: chr17:g.37883641G>A (hg19) ; chr17:g.39727388G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727388G>A , CM000679.2:g.39727388G>A	GRCh38
NC_000017.10:g.37883641G>A , CM000679.1:g.37883641G>A	GRCh37
NC_000017.9:g.35137167G>A	NCBI36
NG_007503.1:g.44249G>A , LRG_724:g.44249G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3253G>A MANE Select	ENSP00000269571.4:p.Val1085Ile
ENST00000269571.9:c.3253G>A	ENSP00000269571.4:p.Val1085Ile
ENST00000406381.6:c.3163G>A	ENSP00000385185.2:p.Val1055Ile
ENST00000445658.6:c.2425G>A	ENSP00000404047.2:p.Val809Ile
ENST00000541774.5:c.3208G>A	ENSP00000446466.1:p.Val1070Ile
ENST00000578373.5:c.*3043G>A	ENSP00000463427.1:n.*3043G>A
ENST00000584450.5:c.3160-301G>A	ENSP00000463714.1:n.3160-301G>A
ENST00000584601.5:c.3163G>A	ENSP00000462438.1:p.Val1055Ile
NM_001005862.2:c.3163G>A , LRG_724t1:c.3163G>A	NP_001005862.1:p.Val1055Ile
NM_001289936.1:c.3208G>A , LRG_724t4:c.3208G>A	NP_001276865.1:p.Val1070Ile
NM_001289937.1:c.3160-301G>A	NP_001276866.1:n.3160-301G>A
NM_004448.3:c.3253G>A , LRG_724t2:c.3253G>A	NP_004439.2:p.Val1085Ile
NR_110535.1:n.3577G>A
XM_024450641.1:c.3391G>A	XP_024306409.1:p.Val1131Ile
XM_024450642.1:c.3346G>A	XP_024306410.1:p.Val1116Ile
XM_024450643.1:c.3301G>A	XP_024306411.1:p.Val1101Ile
NM_001005862.3:c.3163G>A	NP_001005862.1:p.Val1055Ile
NM_001289936.2:c.3208G>A	NP_001276865.1:p.Val1070Ile
NM_001289937.2:c.3160-301G>A	NP_001276866.1:n.3160-301G>A
NM_001382782.1:c.3163G>A	NP_001369711.1:p.Val1055Ile
NM_001382783.1:c.3163G>A	NP_001369712.1:p.Val1055Ile
NM_001382784.1:c.3370G>A	NP_001369713.1:p.Val1124Ile
NM_001382785.1:c.3355G>A	NP_001369714.1:p.Val1119Ile
NM_001382786.1:c.3334G>A	NP_001369715.1:p.Val1112Ile
NM_001382787.1:c.3328G>A	NP_001369716.1:p.Val1110Ile
NM_001382788.1:c.3283G>A	NP_001369717.1:p.Val1095Ile
NM_001382789.1:c.3274G>A	NP_001369718.1:p.Val1092Ile
NM_001382790.1:c.3250G>A	NP_001369719.1:p.Val1084Ile
NM_001382791.1:c.3244G>A	NP_001369720.1:p.Val1082Ile
NM_001382792.1:c.3217G>A	NP_001369721.1:p.Val1073Ile
NM_001382793.1:c.3211G>A	NP_001369722.1:p.Val1071Ile
NM_001382794.1:c.3211G>A	NP_001369723.1:p.Val1071Ile
NM_001382795.1:c.3205G>A	NP_001369724.1:p.Val1069Ile
NM_001382796.1:c.3166G>A	NP_001369725.1:p.Val1056Ile
NM_001382797.1:c.3154G>A	NP_001369726.1:p.Val1052Ile
NM_001382798.1:c.3097G>A	NP_001369727.1:p.Val1033Ile
NM_001382799.1:c.3073G>A	NP_001369728.1:p.Val1025Ile
NM_001382800.1:c.3067G>A	NP_001369729.1:p.Val1023Ile
NM_001382801.1:c.3049G>A	NP_001369730.1:p.Val1017Ile
NM_001382802.1:c.2995G>A	NP_001369731.1:p.Val999Ile
NM_001382803.1:c.3118-301G>A	NP_001369732.1:n.3118-301G>A
NM_001382804.1:c.2425G>A	NP_001369733.1:p.Val809Ile
NM_001382805.1:c.2302G>A	NP_001369734.1:p.Val768Ile
NM_001382806.1:c.2215G>A	NP_001369735.1:p.Val739Ile
NM_004448.4:c.3253G>A MANE Select	NP_004439.2:p.Val1085Ile
NR_110535.2:n.3491G>A