Canonical Allele Identifier: CA399310593

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143243399
• MyVariant Identifiers: chr17:g.37883648A>C (hg19) ; chr17:g.39727395A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727395A>C , CM000679.2:g.39727395A>C	GRCh38
NC_000017.10:g.37883648A>C , CM000679.1:g.37883648A>C	GRCh37
NC_000017.9:g.35137174A>C	NCBI36
NG_007503.1:g.44256A>C , LRG_724:g.44256A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3260A>C MANE Select	ENSP00000269571.4:p.Asp1087Ala
ENST00000269571.9:c.3260A>C	ENSP00000269571.4:p.Asp1087Ala
ENST00000406381.6:c.3170A>C	ENSP00000385185.2:p.Asp1057Ala
ENST00000445658.6:c.2432A>C	ENSP00000404047.2:p.Asp811Ala
ENST00000541774.5:c.3215A>C	ENSP00000446466.1:p.Asp1072Ala
ENST00000578373.5:c.*3050A>C	ENSP00000463427.1:n.*3050A>C
ENST00000584450.5:c.3160-294A>C	ENSP00000463714.1:n.3160-294A>C
ENST00000584601.5:c.3170A>C	ENSP00000462438.1:p.Asp1057Ala
NM_001005862.2:c.3170A>C , LRG_724t1:c.3170A>C	NP_001005862.1:p.Asp1057Ala
NM_001289936.1:c.3215A>C , LRG_724t4:c.3215A>C	NP_001276865.1:p.Asp1072Ala
NM_001289937.1:c.3160-294A>C	NP_001276866.1:n.3160-294A>C
NM_004448.3:c.3260A>C , LRG_724t2:c.3260A>C	NP_004439.2:p.Asp1087Ala
NR_110535.1:n.3584A>C
XM_024450641.1:c.3398A>C	XP_024306409.1:p.Asp1133Ala
XM_024450642.1:c.3353A>C	XP_024306410.1:p.Asp1118Ala
XM_024450643.1:c.3308A>C	XP_024306411.1:p.Asp1103Ala
NM_001005862.3:c.3170A>C	NP_001005862.1:p.Asp1057Ala
NM_001289936.2:c.3215A>C	NP_001276865.1:p.Asp1072Ala
NM_001289937.2:c.3160-294A>C	NP_001276866.1:n.3160-294A>C
NM_001382782.1:c.3170A>C	NP_001369711.1:p.Asp1057Ala
NM_001382783.1:c.3170A>C	NP_001369712.1:p.Asp1057Ala
NM_001382784.1:c.3377A>C	NP_001369713.1:p.Asp1126Ala
NM_001382785.1:c.3362A>C	NP_001369714.1:p.Asp1121Ala
NM_001382786.1:c.3341A>C	NP_001369715.1:p.Asp1114Ala
NM_001382787.1:c.3335A>C	NP_001369716.1:p.Asp1112Ala
NM_001382788.1:c.3290A>C	NP_001369717.1:p.Asp1097Ala
NM_001382789.1:c.3281A>C	NP_001369718.1:p.Asp1094Ala
NM_001382790.1:c.3257A>C	NP_001369719.1:p.Asp1086Ala
NM_001382791.1:c.3251A>C	NP_001369720.1:p.Asp1084Ala
NM_001382792.1:c.3224A>C	NP_001369721.1:p.Asp1075Ala
NM_001382793.1:c.3218A>C	NP_001369722.1:p.Asp1073Ala
NM_001382794.1:c.3218A>C	NP_001369723.1:p.Asp1073Ala
NM_001382795.1:c.3212A>C	NP_001369724.1:p.Asp1071Ala
NM_001382796.1:c.3173A>C	NP_001369725.1:p.Asp1058Ala
NM_001382797.1:c.3161A>C	NP_001369726.1:p.Asp1054Ala
NM_001382798.1:c.3104A>C	NP_001369727.1:p.Asp1035Ala
NM_001382799.1:c.3080A>C	NP_001369728.1:p.Asp1027Ala
NM_001382800.1:c.3074A>C	NP_001369729.1:p.Asp1025Ala
NM_001382801.1:c.3056A>C	NP_001369730.1:p.Asp1019Ala
NM_001382802.1:c.3002A>C	NP_001369731.1:p.Asp1001Ala
NM_001382803.1:c.3118-294A>C	NP_001369732.1:n.3118-294A>C
NM_001382804.1:c.2432A>C	NP_001369733.1:p.Asp811Ala
NM_001382805.1:c.2309A>C	NP_001369734.1:p.Asp770Ala
NM_001382806.1:c.2222A>C	NP_001369735.1:p.Asp741Ala
NM_004448.4:c.3260A>C MANE Select	NP_004439.2:p.Asp1087Ala
NR_110535.2:n.3498A>C