Canonical Allele Identifier: CA499890760

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143304296
• gnomAD v4: 17-39727855-C-T
• MyVariant Identifiers: chr17:g.37884108C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727855C>T , CM000679.2:g.39727855C>T	GRCh38
NC_000017.10:g.37884108C>T , CM000679.1:g.37884108C>T	GRCh37
NC_000017.9:g.35137634C>T	NCBI36
NG_007503.1:g.44716C>T , LRG_724:g.44716C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3579C>T MANE Select	ENSP00000269571.4:p.Asn1193=
ENST00000269571.9:c.3579C>T	ENSP00000269571.4:p.Asn1193=
ENST00000406381.6:c.3489C>T	ENSP00000385185.2:p.Asn1163=
ENST00000445658.6:c.2751C>T	ENSP00000404047.2:p.Asn917=
ENST00000541774.5:c.3534C>T	ENSP00000446466.1:p.Asn1178=
ENST00000578373.5:c.*3369C>T	ENSP00000463427.1:n.*3369C>T
ENST00000584450.5:c.*158C>T	ENSP00000463714.1:n.*158C>T
ENST00000584601.5:c.3489C>T	ENSP00000462438.1:p.Asn1163=
NM_001005862.2:c.3489C>T , LRG_724t1:c.3489C>T	NP_001005862.1:p.Asn1163=
NM_001289936.1:c.3534C>T , LRG_724t4:c.3534C>T	NP_001276865.1:p.Asn1178=
NM_001289937.1:c.*158C>T	NP_001276866.1:n.*158C>T
NM_004448.3:c.3579C>T , LRG_724t2:c.3579C>T	NP_004439.2:p.Asn1193=
NR_110535.1:n.3903C>T
XM_024450641.1:c.3717C>T	XP_024306409.1:p.Asn1239=
XM_024450642.1:c.3672C>T	XP_024306410.1:p.Asn1224=
XM_024450643.1:c.3627C>T	XP_024306411.1:p.Asn1209=
NM_001005862.3:c.3489C>T	NP_001005862.1:p.Asn1163=
NM_001289936.2:c.3534C>T	NP_001276865.1:p.Asn1178=
NM_001289937.2:c.*158C>T	NP_001276866.1:n.*158C>T
NM_001382782.1:c.3489C>T	NP_001369711.1:p.Asn1163=
NM_001382783.1:c.3489C>T	NP_001369712.1:p.Asn1163=
NM_001382784.1:c.3696C>T	NP_001369713.1:p.Asn1232=
NM_001382785.1:c.3681C>T	NP_001369714.1:p.Asn1227=
NM_001382786.1:c.3660C>T	NP_001369715.1:p.Asn1220=
NM_001382787.1:c.3654C>T	NP_001369716.1:p.Asn1218=
NM_001382788.1:c.3609C>T	NP_001369717.1:p.Asn1203=
NM_001382789.1:c.3600C>T	NP_001369718.1:p.Asn1200=
NM_001382790.1:c.3576C>T	NP_001369719.1:p.Asn1192=
NM_001382791.1:c.3570C>T	NP_001369720.1:p.Asn1190=
NM_001382792.1:c.3543C>T	NP_001369721.1:p.Asn1181=
NM_001382793.1:c.3537C>T	NP_001369722.1:p.Asn1179=
NM_001382794.1:c.3537C>T	NP_001369723.1:p.Asn1179=
NM_001382795.1:c.3531C>T	NP_001369724.1:p.Asn1177=
NM_001382796.1:c.3492C>T	NP_001369725.1:p.Asn1164=
NM_001382797.1:c.3480C>T	NP_001369726.1:p.Asn1160=
NM_001382798.1:c.3423C>T	NP_001369727.1:p.Asn1141=
NM_001382799.1:c.3399C>T	NP_001369728.1:p.Asn1133=
NM_001382800.1:c.3393C>T	NP_001369729.1:p.Asn1131=
NM_001382801.1:c.3375C>T	NP_001369730.1:p.Asn1125=
NM_001382802.1:c.3321C>T	NP_001369731.1:p.Asn1107=
NM_001382803.1:c.*158C>T	NP_001369732.1:n.*158C>T
NM_001382804.1:c.2751C>T	NP_001369733.1:p.Asn917=
NM_001382805.1:c.2628C>T	NP_001369734.1:p.Asn876=
NM_001382806.1:c.2541C>T	NP_001369735.1:p.Asn847=
NM_004448.4:c.3579C>T MANE Select	NP_004439.2:p.Asn1193=
NR_110535.2:n.3817C>T