Canonical Allele Identifier: CA399312747

Gene: ERBB2

Linked Data

• gnomAD v4: 17-39727520-G-A
• MyVariant Identifiers: chr17:g.37883773G>A (hg19) ; chr17:g.39727520G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3385G>A MANE Select	ENSP00000269571.4:p.Ala1129Thr
ENST00000269571.9:c.3385G>A	ENSP00000269571.4:p.Ala1129Thr
ENST00000406381.6:c.3295G>A	ENSP00000385185.2:p.Ala1099Thr
ENST00000445658.6:c.2557G>A	ENSP00000404047.2:p.Ala853Thr
ENST00000541774.5:c.3340G>A	ENSP00000446466.1:p.Ala1114Thr
ENST00000578373.5:c.*3175G>A	ENSP00000463427.1:n.*3175G>A
ENST00000584450.5:c.3160-169G>A	ENSP00000463714.1:n.3160-169G>A
ENST00000584601.5:c.3295G>A	ENSP00000462438.1:p.Ala1099Thr
NM_001005862.2:c.3295G>A , LRG_724t1:c.3295G>A	NP_001005862.1:p.Ala1099Thr
NM_001289936.1:c.3340G>A , LRG_724t4:c.3340G>A	NP_001276865.1:p.Ala1114Thr
NM_001289937.1:c.3160-169G>A	NP_001276866.1:n.3160-169G>A
NM_004448.3:c.3385G>A , LRG_724t2:c.3385G>A	NP_004439.2:p.Ala1129Thr
NR_110535.1:n.3709G>A
XM_024450641.1:c.3523G>A	XP_024306409.1:p.Ala1175Thr
XM_024450642.1:c.3478G>A	XP_024306410.1:p.Ala1160Thr
XM_024450643.1:c.3433G>A	XP_024306411.1:p.Ala1145Thr
NM_001005862.3:c.3295G>A	NP_001005862.1:p.Ala1099Thr
NM_001289936.2:c.3340G>A	NP_001276865.1:p.Ala1114Thr
NM_001289937.2:c.3160-169G>A	NP_001276866.1:n.3160-169G>A
NM_001382782.1:c.3295G>A	NP_001369711.1:p.Ala1099Thr
NM_001382783.1:c.3295G>A	NP_001369712.1:p.Ala1099Thr
NM_001382784.1:c.3502G>A	NP_001369713.1:p.Ala1168Thr
NM_001382785.1:c.3487G>A	NP_001369714.1:p.Ala1163Thr
NM_001382786.1:c.3466G>A	NP_001369715.1:p.Ala1156Thr
NM_001382787.1:c.3460G>A	NP_001369716.1:p.Ala1154Thr
NM_001382788.1:c.3415G>A	NP_001369717.1:p.Ala1139Thr
NM_001382789.1:c.3406G>A	NP_001369718.1:p.Ala1136Thr
NM_001382790.1:c.3382G>A	NP_001369719.1:p.Ala1128Thr
NM_001382791.1:c.3376G>A	NP_001369720.1:p.Ala1126Thr
NM_001382792.1:c.3349G>A	NP_001369721.1:p.Ala1117Thr
NM_001382793.1:c.3343G>A	NP_001369722.1:p.Ala1115Thr
NM_001382794.1:c.3343G>A	NP_001369723.1:p.Ala1115Thr
NM_001382795.1:c.3337G>A	NP_001369724.1:p.Ala1113Thr
NM_001382796.1:c.3298G>A	NP_001369725.1:p.Ala1100Thr
NM_001382797.1:c.3286G>A	NP_001369726.1:p.Ala1096Thr
NM_001382798.1:c.3229G>A	NP_001369727.1:p.Ala1077Thr
NM_001382799.1:c.3205G>A	NP_001369728.1:p.Ala1069Thr
NM_001382800.1:c.3199G>A	NP_001369729.1:p.Ala1067Thr
NM_001382801.1:c.3181G>A	NP_001369730.1:p.Ala1061Thr
NM_001382802.1:c.3127G>A	NP_001369731.1:p.Ala1043Thr
NM_001382803.1:c.3118-169G>A	NP_001369732.1:n.3118-169G>A
NM_001382804.1:c.2557G>A	NP_001369733.1:p.Ala853Thr
NM_001382805.1:c.2434G>A	NP_001369734.1:p.Ala812Thr
NM_001382806.1:c.2347G>A	NP_001369735.1:p.Ala783Thr
NM_004448.4:c.3385G>A MANE Select	NP_004439.2:p.Ala1129Thr
NR_110535.2:n.3623G>A