Canonical Allele Identifier: CA399310692

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143245983
• gnomAD v4: 17-39727416-C-T
• MyVariant Identifiers: chr17:g.37883669C>T (hg19) ; chr17:g.39727416C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727416C>T , CM000679.2:g.39727416C>T	GRCh38
NC_000017.10:g.37883669C>T , CM000679.1:g.37883669C>T	GRCh37
NC_000017.9:g.35137195C>T	NCBI36
NG_007503.1:g.44277C>T , LRG_724:g.44277C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3281C>T MANE Select	ENSP00000269571.4:p.Ala1094Val
ENST00000269571.9:c.3281C>T	ENSP00000269571.4:p.Ala1094Val
ENST00000406381.6:c.3191C>T	ENSP00000385185.2:p.Ala1064Val
ENST00000445658.6:c.2453C>T	ENSP00000404047.2:p.Ala818Val
ENST00000541774.5:c.3236C>T	ENSP00000446466.1:p.Ala1079Val
ENST00000578373.5:c.*3071C>T	ENSP00000463427.1:n.*3071C>T
ENST00000584450.5:c.3160-273C>T	ENSP00000463714.1:n.3160-273C>T
ENST00000584601.5:c.3191C>T	ENSP00000462438.1:p.Ala1064Val
NM_001005862.2:c.3191C>T , LRG_724t1:c.3191C>T	NP_001005862.1:p.Ala1064Val
NM_001289936.1:c.3236C>T , LRG_724t4:c.3236C>T	NP_001276865.1:p.Ala1079Val
NM_001289937.1:c.3160-273C>T	NP_001276866.1:n.3160-273C>T
NM_004448.3:c.3281C>T , LRG_724t2:c.3281C>T	NP_004439.2:p.Ala1094Val
NR_110535.1:n.3605C>T
XM_024450641.1:c.3419C>T	XP_024306409.1:p.Ala1140Val
XM_024450642.1:c.3374C>T	XP_024306410.1:p.Ala1125Val
XM_024450643.1:c.3329C>T	XP_024306411.1:p.Ala1110Val
NM_001005862.3:c.3191C>T	NP_001005862.1:p.Ala1064Val
NM_001289936.2:c.3236C>T	NP_001276865.1:p.Ala1079Val
NM_001289937.2:c.3160-273C>T	NP_001276866.1:n.3160-273C>T
NM_001382782.1:c.3191C>T	NP_001369711.1:p.Ala1064Val
NM_001382783.1:c.3191C>T	NP_001369712.1:p.Ala1064Val
NM_001382784.1:c.3398C>T	NP_001369713.1:p.Ala1133Val
NM_001382785.1:c.3383C>T	NP_001369714.1:p.Ala1128Val
NM_001382786.1:c.3362C>T	NP_001369715.1:p.Ala1121Val
NM_001382787.1:c.3356C>T	NP_001369716.1:p.Ala1119Val
NM_001382788.1:c.3311C>T	NP_001369717.1:p.Ala1104Val
NM_001382789.1:c.3302C>T	NP_001369718.1:p.Ala1101Val
NM_001382790.1:c.3278C>T	NP_001369719.1:p.Ala1093Val
NM_001382791.1:c.3272C>T	NP_001369720.1:p.Ala1091Val
NM_001382792.1:c.3245C>T	NP_001369721.1:p.Ala1082Val
NM_001382793.1:c.3239C>T	NP_001369722.1:p.Ala1080Val
NM_001382794.1:c.3239C>T	NP_001369723.1:p.Ala1080Val
NM_001382795.1:c.3233C>T	NP_001369724.1:p.Ala1078Val
NM_001382796.1:c.3194C>T	NP_001369725.1:p.Ala1065Val
NM_001382797.1:c.3182C>T	NP_001369726.1:p.Ala1061Val
NM_001382798.1:c.3125C>T	NP_001369727.1:p.Ala1042Val
NM_001382799.1:c.3101C>T	NP_001369728.1:p.Ala1034Val
NM_001382800.1:c.3095C>T	NP_001369729.1:p.Ala1032Val
NM_001382801.1:c.3077C>T	NP_001369730.1:p.Ala1026Val
NM_001382802.1:c.3023C>T	NP_001369731.1:p.Ala1008Val
NM_001382803.1:c.3118-273C>T	NP_001369732.1:n.3118-273C>T
NM_001382804.1:c.2453C>T	NP_001369733.1:p.Ala818Val
NM_001382805.1:c.2330C>T	NP_001369734.1:p.Ala777Val
NM_001382806.1:c.2243C>T	NP_001369735.1:p.Ala748Val
NM_004448.4:c.3281C>T MANE Select	NP_004439.2:p.Ala1094Val
NR_110535.2:n.3519C>T