Canonical Allele Identifier: CA399310865

Gene: ERBB2

Linked Data

• dbSNP Id: rs1364114001
• gnomAD v2: 17-37883689-C-T
• gnomAD v3: 17-39727436-C-T
• gnomAD v4: 17-39727436-C-T
• MyVariant Identifiers: chr17:g.37883689C>T (hg19) ; chr17:g.39727436C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727436C>T , CM000679.2:g.39727436C>T	GRCh38
NC_000017.10:g.37883689C>T , CM000679.1:g.37883689C>T	GRCh37
NC_000017.9:g.35137215C>T	NCBI36
NG_007503.1:g.44297C>T , LRG_724:g.44297C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3301C>T MANE Select	ENSP00000269571.4:p.Leu1101Phe
ENST00000269571.9:c.3301C>T	ENSP00000269571.4:p.Leu1101Phe
ENST00000406381.6:c.3211C>T	ENSP00000385185.2:p.Leu1071Phe
ENST00000445658.6:c.2473C>T	ENSP00000404047.2:p.Leu825Phe
ENST00000541774.5:c.3256C>T	ENSP00000446466.1:p.Leu1086Phe
ENST00000578373.5:c.*3091C>T	ENSP00000463427.1:n.*3091C>T
ENST00000584450.5:c.3160-253C>T	ENSP00000463714.1:n.3160-253C>T
ENST00000584601.5:c.3211C>T	ENSP00000462438.1:p.Leu1071Phe
NM_001005862.2:c.3211C>T , LRG_724t1:c.3211C>T	NP_001005862.1:p.Leu1071Phe
NM_001289936.1:c.3256C>T , LRG_724t4:c.3256C>T	NP_001276865.1:p.Leu1086Phe
NM_001289937.1:c.3160-253C>T	NP_001276866.1:n.3160-253C>T
NM_004448.3:c.3301C>T , LRG_724t2:c.3301C>T	NP_004439.2:p.Leu1101Phe
NR_110535.1:n.3625C>T
XM_024450641.1:c.3439C>T	XP_024306409.1:p.Leu1147Phe
XM_024450642.1:c.3394C>T	XP_024306410.1:p.Leu1132Phe
XM_024450643.1:c.3349C>T	XP_024306411.1:p.Leu1117Phe
NM_001005862.3:c.3211C>T	NP_001005862.1:p.Leu1071Phe
NM_001289936.2:c.3256C>T	NP_001276865.1:p.Leu1086Phe
NM_001289937.2:c.3160-253C>T	NP_001276866.1:n.3160-253C>T
NM_001382782.1:c.3211C>T	NP_001369711.1:p.Leu1071Phe
NM_001382783.1:c.3211C>T	NP_001369712.1:p.Leu1071Phe
NM_001382784.1:c.3418C>T	NP_001369713.1:p.Leu1140Phe
NM_001382785.1:c.3403C>T	NP_001369714.1:p.Leu1135Phe
NM_001382786.1:c.3382C>T	NP_001369715.1:p.Leu1128Phe
NM_001382787.1:c.3376C>T	NP_001369716.1:p.Leu1126Phe
NM_001382788.1:c.3331C>T	NP_001369717.1:p.Leu1111Phe
NM_001382789.1:c.3322C>T	NP_001369718.1:p.Leu1108Phe
NM_001382790.1:c.3298C>T	NP_001369719.1:p.Leu1100Phe
NM_001382791.1:c.3292C>T	NP_001369720.1:p.Leu1098Phe
NM_001382792.1:c.3265C>T	NP_001369721.1:p.Leu1089Phe
NM_001382793.1:c.3259C>T	NP_001369722.1:p.Leu1087Phe
NM_001382794.1:c.3259C>T	NP_001369723.1:p.Leu1087Phe
NM_001382795.1:c.3253C>T	NP_001369724.1:p.Leu1085Phe
NM_001382796.1:c.3214C>T	NP_001369725.1:p.Leu1072Phe
NM_001382797.1:c.3202C>T	NP_001369726.1:p.Leu1068Phe
NM_001382798.1:c.3145C>T	NP_001369727.1:p.Leu1049Phe
NM_001382799.1:c.3121C>T	NP_001369728.1:p.Leu1041Phe
NM_001382800.1:c.3115C>T	NP_001369729.1:p.Leu1039Phe
NM_001382801.1:c.3097C>T	NP_001369730.1:p.Leu1033Phe
NM_001382802.1:c.3043C>T	NP_001369731.1:p.Leu1015Phe
NM_001382803.1:c.3118-253C>T	NP_001369732.1:n.3118-253C>T
NM_001382804.1:c.2473C>T	NP_001369733.1:p.Leu825Phe
NM_001382805.1:c.2350C>T	NP_001369734.1:p.Leu784Phe
NM_001382806.1:c.2263C>T	NP_001369735.1:p.Leu755Phe
NM_004448.4:c.3301C>T MANE Select	NP_004439.2:p.Leu1101Phe
NR_110535.2:n.3539C>T