Canonical Allele Identifier: CA499890298

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143260512
• gnomAD v4: 17-39727534-C-T
• MyVariant Identifiers: chr17:g.37883787C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727534C>T , CM000679.2:g.39727534C>T	GRCh38
NC_000017.10:g.37883787C>T , CM000679.1:g.37883787C>T	GRCh37
NC_000017.9:g.35137313C>T	NCBI36
NG_007503.1:g.44395C>T , LRG_724:g.44395C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3399C>T MANE Select	ENSP00000269571.4:p.Cys1133=
ENST00000269571.9:c.3399C>T	ENSP00000269571.4:p.Cys1133=
ENST00000406381.6:c.3309C>T	ENSP00000385185.2:p.Cys1103=
ENST00000445658.6:c.2571C>T	ENSP00000404047.2:p.Cys857=
ENST00000541774.5:c.3354C>T	ENSP00000446466.1:p.Cys1118=
ENST00000578373.5:c.*3189C>T	ENSP00000463427.1:n.*3189C>T
ENST00000584450.5:c.3160-155C>T	ENSP00000463714.1:n.3160-155C>T
ENST00000584601.5:c.3309C>T	ENSP00000462438.1:p.Cys1103=
NM_001005862.2:c.3309C>T , LRG_724t1:c.3309C>T	NP_001005862.1:p.Cys1103=
NM_001289936.1:c.3354C>T , LRG_724t4:c.3354C>T	NP_001276865.1:p.Cys1118=
NM_001289937.1:c.3160-155C>T	NP_001276866.1:n.3160-155C>T
NM_004448.3:c.3399C>T , LRG_724t2:c.3399C>T	NP_004439.2:p.Cys1133=
NR_110535.1:n.3723C>T
XM_024450641.1:c.3537C>T	XP_024306409.1:p.Cys1179=
XM_024450642.1:c.3492C>T	XP_024306410.1:p.Cys1164=
XM_024450643.1:c.3447C>T	XP_024306411.1:p.Cys1149=
NM_001005862.3:c.3309C>T	NP_001005862.1:p.Cys1103=
NM_001289936.2:c.3354C>T	NP_001276865.1:p.Cys1118=
NM_001289937.2:c.3160-155C>T	NP_001276866.1:n.3160-155C>T
NM_001382782.1:c.3309C>T	NP_001369711.1:p.Cys1103=
NM_001382783.1:c.3309C>T	NP_001369712.1:p.Cys1103=
NM_001382784.1:c.3516C>T	NP_001369713.1:p.Cys1172=
NM_001382785.1:c.3501C>T	NP_001369714.1:p.Cys1167=
NM_001382786.1:c.3480C>T	NP_001369715.1:p.Cys1160=
NM_001382787.1:c.3474C>T	NP_001369716.1:p.Cys1158=
NM_001382788.1:c.3429C>T	NP_001369717.1:p.Cys1143=
NM_001382789.1:c.3420C>T	NP_001369718.1:p.Cys1140=
NM_001382790.1:c.3396C>T	NP_001369719.1:p.Cys1132=
NM_001382791.1:c.3390C>T	NP_001369720.1:p.Cys1130=
NM_001382792.1:c.3363C>T	NP_001369721.1:p.Cys1121=
NM_001382793.1:c.3357C>T	NP_001369722.1:p.Cys1119=
NM_001382794.1:c.3357C>T	NP_001369723.1:p.Cys1119=
NM_001382795.1:c.3351C>T	NP_001369724.1:p.Cys1117=
NM_001382796.1:c.3312C>T	NP_001369725.1:p.Cys1104=
NM_001382797.1:c.3300C>T	NP_001369726.1:p.Cys1100=
NM_001382798.1:c.3243C>T	NP_001369727.1:p.Cys1081=
NM_001382799.1:c.3219C>T	NP_001369728.1:p.Cys1073=
NM_001382800.1:c.3213C>T	NP_001369729.1:p.Cys1071=
NM_001382801.1:c.3195C>T	NP_001369730.1:p.Cys1065=
NM_001382802.1:c.3141C>T	NP_001369731.1:p.Cys1047=
NM_001382803.1:c.3118-155C>T	NP_001369732.1:n.3118-155C>T
NM_001382804.1:c.2571C>T	NP_001369733.1:p.Cys857=
NM_001382805.1:c.2448C>T	NP_001369734.1:p.Cys816=
NM_001382806.1:c.2361C>T	NP_001369735.1:p.Cys787=
NM_004448.4:c.3399C>T MANE Select	NP_004439.2:p.Cys1133=
NR_110535.2:n.3637C>T