Canonical Allele Identifier: CA290443280

Gene: ERBB2

Linked Data

• dbSNP Id: rs779955263
• gnomAD v4: 17-39727387-T-C
• MyVariant Identifiers: chr17:g.37883640T>C (hg19) ; chr17:g.39727387T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727387T>C , CM000679.2:g.39727387T>C	GRCh38
NC_000017.10:g.37883640T>C , CM000679.1:g.37883640T>C	GRCh37
NC_000017.9:g.35137166T>C	NCBI36
NG_007503.1:g.44248T>C , LRG_724:g.44248T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3252T>C MANE Select	ENSP00000269571.4:p.Asp1084=
ENST00000269571.9:c.3252T>C	ENSP00000269571.4:p.Asp1084=
ENST00000406381.6:c.3162T>C	ENSP00000385185.2:p.Asp1054=
ENST00000445658.6:c.2424T>C	ENSP00000404047.2:p.Asp808=
ENST00000541774.5:c.3207T>C	ENSP00000446466.1:p.Asp1069=
ENST00000578373.5:c.*3042T>C	ENSP00000463427.1:n.*3042T>C
ENST00000584450.5:c.3160-302T>C	ENSP00000463714.1:n.3160-302T>C
ENST00000584601.5:c.3162T>C	ENSP00000462438.1:p.Asp1054=
NM_001005862.2:c.3162T>C , LRG_724t1:c.3162T>C	NP_001005862.1:p.Asp1054=
NM_001289936.1:c.3207T>C , LRG_724t4:c.3207T>C	NP_001276865.1:p.Asp1069=
NM_001289937.1:c.3160-302T>C	NP_001276866.1:n.3160-302T>C
NM_004448.3:c.3252T>C , LRG_724t2:c.3252T>C	NP_004439.2:p.Asp1084=
NR_110535.1:n.3576T>C
XM_024450641.1:c.3390T>C	XP_024306409.1:p.Asp1130=
XM_024450642.1:c.3345T>C	XP_024306410.1:p.Asp1115=
XM_024450643.1:c.3300T>C	XP_024306411.1:p.Asp1100=
NM_001005862.3:c.3162T>C	NP_001005862.1:p.Asp1054=
NM_001289936.2:c.3207T>C	NP_001276865.1:p.Asp1069=
NM_001289937.2:c.3160-302T>C	NP_001276866.1:n.3160-302T>C
NM_001382782.1:c.3162T>C	NP_001369711.1:p.Asp1054=
NM_001382783.1:c.3162T>C	NP_001369712.1:p.Asp1054=
NM_001382784.1:c.3369T>C	NP_001369713.1:p.Asp1123=
NM_001382785.1:c.3354T>C	NP_001369714.1:p.Asp1118=
NM_001382786.1:c.3333T>C	NP_001369715.1:p.Asp1111=
NM_001382787.1:c.3327T>C	NP_001369716.1:p.Asp1109=
NM_001382788.1:c.3282T>C	NP_001369717.1:p.Asp1094=
NM_001382789.1:c.3273T>C	NP_001369718.1:p.Asp1091=
NM_001382790.1:c.3249T>C	NP_001369719.1:p.Asp1083=
NM_001382791.1:c.3243T>C	NP_001369720.1:p.Asp1081=
NM_001382792.1:c.3216T>C	NP_001369721.1:p.Asp1072=
NM_001382793.1:c.3210T>C	NP_001369722.1:p.Asp1070=
NM_001382794.1:c.3210T>C	NP_001369723.1:p.Asp1070=
NM_001382795.1:c.3204T>C	NP_001369724.1:p.Asp1068=
NM_001382796.1:c.3165T>C	NP_001369725.1:p.Asp1055=
NM_001382797.1:c.3153T>C	NP_001369726.1:p.Asp1051=
NM_001382798.1:c.3096T>C	NP_001369727.1:p.Asp1032=
NM_001382799.1:c.3072T>C	NP_001369728.1:p.Asp1024=
NM_001382800.1:c.3066T>C	NP_001369729.1:p.Asp1022=
NM_001382801.1:c.3048T>C	NP_001369730.1:p.Asp1016=
NM_001382802.1:c.2994T>C	NP_001369731.1:p.Asp998=
NM_001382803.1:c.3118-302T>C	NP_001369732.1:n.3118-302T>C
NM_001382804.1:c.2424T>C	NP_001369733.1:p.Asp808=
NM_001382805.1:c.2301T>C	NP_001369734.1:p.Asp767=
NM_001382806.1:c.2214T>C	NP_001369735.1:p.Asp738=
NM_004448.4:c.3252T>C MANE Select	NP_004439.2:p.Asp1084=
NR_110535.2:n.3490T>C