Canonical Allele Identifier: CA499671591

Gene: ERBB2

Linked Data

• dbSNP Id: rs1447390580
• MyVariant Identifiers: chr17:g.37883577G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727324G>C , CM000679.2:g.39727324G>C	GRCh38
NC_000017.10:g.37883577G>C , CM000679.1:g.37883577G>C	GRCh37
NC_000017.9:g.35137103G>C	NCBI36
NG_007503.1:g.44185G>C , LRG_724:g.44185G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3189G>C MANE Select	ENSP00000269571.4:p.Leu1063=
ENST00000269571.9:c.3189G>C	ENSP00000269571.4:p.Leu1063=
ENST00000406381.6:c.3099G>C	ENSP00000385185.2:p.Leu1033=
ENST00000445658.6:c.2361G>C	ENSP00000404047.2:p.Leu787=
ENST00000541774.5:c.3144G>C	ENSP00000446466.1:p.Leu1048=
ENST00000578373.5:c.*2979G>C	ENSP00000463427.1:n.*2979G>C
ENST00000584450.5:c.3159+321G>C	ENSP00000463714.1:n.3159+321G>C
ENST00000584601.5:c.3099G>C	ENSP00000462438.1:p.Leu1033=
NM_001005862.2:c.3099G>C , LRG_724t1:c.3099G>C	NP_001005862.1:p.Leu1033=
NM_001289936.1:c.3144G>C , LRG_724t4:c.3144G>C	NP_001276865.1:p.Leu1048=
NM_001289937.1:c.3159+321G>C	NP_001276866.1:n.3159+321G>C
NM_004448.3:c.3189G>C , LRG_724t2:c.3189G>C	NP_004439.2:p.Leu1063=
NR_110535.1:n.3513G>C
XM_024450641.1:c.3327G>C	XP_024306409.1:p.Leu1109=
XM_024450642.1:c.3282G>C	XP_024306410.1:p.Leu1094=
XM_024450643.1:c.3237G>C	XP_024306411.1:p.Leu1079=
NM_001005862.3:c.3099G>C	NP_001005862.1:p.Leu1033=
NM_001289936.2:c.3144G>C	NP_001276865.1:p.Leu1048=
NM_001289937.2:c.3159+321G>C	NP_001276866.1:n.3159+321G>C
NM_001382782.1:c.3099G>C	NP_001369711.1:p.Leu1033=
NM_001382783.1:c.3099G>C	NP_001369712.1:p.Leu1033=
NM_001382784.1:c.3306G>C	NP_001369713.1:p.Leu1102=
NM_001382785.1:c.3291G>C	NP_001369714.1:p.Leu1097=
NM_001382786.1:c.3270G>C	NP_001369715.1:p.Leu1090=
NM_001382787.1:c.3264G>C	NP_001369716.1:p.Leu1088=
NM_001382788.1:c.3219G>C	NP_001369717.1:p.Leu1073=
NM_001382789.1:c.3210G>C	NP_001369718.1:p.Leu1070=
NM_001382790.1:c.3186G>C	NP_001369719.1:p.Leu1062=
NM_001382791.1:c.3180G>C	NP_001369720.1:p.Leu1060=
NM_001382792.1:c.3153G>C	NP_001369721.1:p.Leu1051=
NM_001382793.1:c.3147G>C	NP_001369722.1:p.Leu1049=
NM_001382794.1:c.3147G>C	NP_001369723.1:p.Leu1049=
NM_001382795.1:c.3141G>C	NP_001369724.1:p.Leu1047=
NM_001382796.1:c.3102G>C	NP_001369725.1:p.Leu1034=
NM_001382797.1:c.3090G>C	NP_001369726.1:p.Leu1030=
NM_001382798.1:c.3033G>C	NP_001369727.1:p.Leu1011=
NM_001382799.1:c.3009G>C	NP_001369728.1:p.Leu1003=
NM_001382800.1:c.3003G>C	NP_001369729.1:p.Leu1001=
NM_001382801.1:c.2985G>C	NP_001369730.1:p.Leu995=
NM_001382802.1:c.2931G>C	NP_001369731.1:p.Leu977=
NM_001382803.1:c.3117+321G>C	NP_001369732.1:n.3117+321G>C
NM_001382804.1:c.2361G>C	NP_001369733.1:p.Leu787=
NM_001382805.1:c.2238G>C	NP_001369734.1:p.Leu746=
NM_001382806.1:c.2151G>C	NP_001369735.1:p.Leu717=
NM_004448.4:c.3189G>C MANE Select	NP_004439.2:p.Leu1063=
NR_110535.2:n.3427G>C