Canonical Allele Identifier: CA399310527

Gene: ERBB2

Linked Data

• MyVariant Identifiers: chr17:g.37883639A>C (hg19) ; chr17:g.39727386A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727386A>C , CM000679.2:g.39727386A>C	GRCh38
NC_000017.10:g.37883639A>C , CM000679.1:g.37883639A>C	GRCh37
NC_000017.9:g.35137165A>C	NCBI36
NG_007503.1:g.44247A>C , LRG_724:g.44247A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3251A>C MANE Select	ENSP00000269571.4:p.Asp1084Ala
ENST00000269571.9:c.3251A>C	ENSP00000269571.4:p.Asp1084Ala
ENST00000406381.6:c.3161A>C	ENSP00000385185.2:p.Asp1054Ala
ENST00000445658.6:c.2423A>C	ENSP00000404047.2:p.Asp808Ala
ENST00000541774.5:c.3206A>C	ENSP00000446466.1:p.Asp1069Ala
ENST00000578373.5:c.*3041A>C	ENSP00000463427.1:n.*3041A>C
ENST00000584450.5:c.3160-303A>C	ENSP00000463714.1:n.3160-303A>C
ENST00000584601.5:c.3161A>C	ENSP00000462438.1:p.Asp1054Ala
NM_001005862.2:c.3161A>C , LRG_724t1:c.3161A>C	NP_001005862.1:p.Asp1054Ala
NM_001289936.1:c.3206A>C , LRG_724t4:c.3206A>C	NP_001276865.1:p.Asp1069Ala
NM_001289937.1:c.3160-303A>C	NP_001276866.1:n.3160-303A>C
NM_004448.3:c.3251A>C , LRG_724t2:c.3251A>C	NP_004439.2:p.Asp1084Ala
NR_110535.1:n.3575A>C
XM_024450641.1:c.3389A>C	XP_024306409.1:p.Asp1130Ala
XM_024450642.1:c.3344A>C	XP_024306410.1:p.Asp1115Ala
XM_024450643.1:c.3299A>C	XP_024306411.1:p.Asp1100Ala
NM_001005862.3:c.3161A>C	NP_001005862.1:p.Asp1054Ala
NM_001289936.2:c.3206A>C	NP_001276865.1:p.Asp1069Ala
NM_001289937.2:c.3160-303A>C	NP_001276866.1:n.3160-303A>C
NM_001382782.1:c.3161A>C	NP_001369711.1:p.Asp1054Ala
NM_001382783.1:c.3161A>C	NP_001369712.1:p.Asp1054Ala
NM_001382784.1:c.3368A>C	NP_001369713.1:p.Asp1123Ala
NM_001382785.1:c.3353A>C	NP_001369714.1:p.Asp1118Ala
NM_001382786.1:c.3332A>C	NP_001369715.1:p.Asp1111Ala
NM_001382787.1:c.3326A>C	NP_001369716.1:p.Asp1109Ala
NM_001382788.1:c.3281A>C	NP_001369717.1:p.Asp1094Ala
NM_001382789.1:c.3272A>C	NP_001369718.1:p.Asp1091Ala
NM_001382790.1:c.3248A>C	NP_001369719.1:p.Asp1083Ala
NM_001382791.1:c.3242A>C	NP_001369720.1:p.Asp1081Ala
NM_001382792.1:c.3215A>C	NP_001369721.1:p.Asp1072Ala
NM_001382793.1:c.3209A>C	NP_001369722.1:p.Asp1070Ala
NM_001382794.1:c.3209A>C	NP_001369723.1:p.Asp1070Ala
NM_001382795.1:c.3203A>C	NP_001369724.1:p.Asp1068Ala
NM_001382796.1:c.3164A>C	NP_001369725.1:p.Asp1055Ala
NM_001382797.1:c.3152A>C	NP_001369726.1:p.Asp1051Ala
NM_001382798.1:c.3095A>C	NP_001369727.1:p.Asp1032Ala
NM_001382799.1:c.3071A>C	NP_001369728.1:p.Asp1024Ala
NM_001382800.1:c.3065A>C	NP_001369729.1:p.Asp1022Ala
NM_001382801.1:c.3047A>C	NP_001369730.1:p.Asp1016Ala
NM_001382802.1:c.2993A>C	NP_001369731.1:p.Asp998Ala
NM_001382803.1:c.3118-303A>C	NP_001369732.1:n.3118-303A>C
NM_001382804.1:c.2423A>C	NP_001369733.1:p.Asp808Ala
NM_001382805.1:c.2300A>C	NP_001369734.1:p.Asp767Ala
NM_001382806.1:c.2213A>C	NP_001369735.1:p.Asp738Ala
NM_004448.4:c.3251A>C MANE Select	NP_004439.2:p.Asp1084Ala
NR_110535.2:n.3489A>C