Canonical Allele Identifier: CA290443229

Gene: ERBB2

Linked Data

• dbSNP Id: rs772604432
• gnomAD v4: 17-39727376-G-C
• MyVariant Identifiers: chr17:g.37883629G>C (hg19) ; chr17:g.39727376G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727376G>C , CM000679.2:g.39727376G>C	GRCh38
NC_000017.10:g.37883629G>C , CM000679.1:g.37883629G>C	GRCh37
NC_000017.9:g.35137155G>C	NCBI36
NG_007503.1:g.44237G>C , LRG_724:g.44237G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3241G>C MANE Select	ENSP00000269571.4:p.Ala1081Pro
ENST00000269571.9:c.3241G>C	ENSP00000269571.4:p.Ala1081Pro
ENST00000406381.6:c.3151G>C	ENSP00000385185.2:p.Ala1051Pro
ENST00000445658.6:c.2413G>C	ENSP00000404047.2:p.Ala805Pro
ENST00000541774.5:c.3196G>C	ENSP00000446466.1:p.Ala1066Pro
ENST00000578373.5:c.*3031G>C	ENSP00000463427.1:n.*3031G>C
ENST00000584450.5:c.3160-313G>C	ENSP00000463714.1:n.3160-313G>C
ENST00000584601.5:c.3151G>C	ENSP00000462438.1:p.Ala1051Pro
NM_001005862.2:c.3151G>C , LRG_724t1:c.3151G>C	NP_001005862.1:p.Ala1051Pro
NM_001289936.1:c.3196G>C , LRG_724t4:c.3196G>C	NP_001276865.1:p.Ala1066Pro
NM_001289937.1:c.3160-313G>C	NP_001276866.1:n.3160-313G>C
NM_004448.3:c.3241G>C , LRG_724t2:c.3241G>C	NP_004439.2:p.Ala1081Pro
NR_110535.1:n.3565G>C
XM_024450641.1:c.3379G>C	XP_024306409.1:p.Ala1127Pro
XM_024450642.1:c.3334G>C	XP_024306410.1:p.Ala1112Pro
XM_024450643.1:c.3289G>C	XP_024306411.1:p.Ala1097Pro
NM_001005862.3:c.3151G>C	NP_001005862.1:p.Ala1051Pro
NM_001289936.2:c.3196G>C	NP_001276865.1:p.Ala1066Pro
NM_001289937.2:c.3160-313G>C	NP_001276866.1:n.3160-313G>C
NM_001382782.1:c.3151G>C	NP_001369711.1:p.Ala1051Pro
NM_001382783.1:c.3151G>C	NP_001369712.1:p.Ala1051Pro
NM_001382784.1:c.3358G>C	NP_001369713.1:p.Ala1120Pro
NM_001382785.1:c.3343G>C	NP_001369714.1:p.Ala1115Pro
NM_001382786.1:c.3322G>C	NP_001369715.1:p.Ala1108Pro
NM_001382787.1:c.3316G>C	NP_001369716.1:p.Ala1106Pro
NM_001382788.1:c.3271G>C	NP_001369717.1:p.Ala1091Pro
NM_001382789.1:c.3262G>C	NP_001369718.1:p.Ala1088Pro
NM_001382790.1:c.3238G>C	NP_001369719.1:p.Ala1080Pro
NM_001382791.1:c.3232G>C	NP_001369720.1:p.Ala1078Pro
NM_001382792.1:c.3205G>C	NP_001369721.1:p.Ala1069Pro
NM_001382793.1:c.3199G>C	NP_001369722.1:p.Ala1067Pro
NM_001382794.1:c.3199G>C	NP_001369723.1:p.Ala1067Pro
NM_001382795.1:c.3193G>C	NP_001369724.1:p.Ala1065Pro
NM_001382796.1:c.3154G>C	NP_001369725.1:p.Ala1052Pro
NM_001382797.1:c.3142G>C	NP_001369726.1:p.Ala1048Pro
NM_001382798.1:c.3085G>C	NP_001369727.1:p.Ala1029Pro
NM_001382799.1:c.3061G>C	NP_001369728.1:p.Ala1021Pro
NM_001382800.1:c.3055G>C	NP_001369729.1:p.Ala1019Pro
NM_001382801.1:c.3037G>C	NP_001369730.1:p.Ala1013Pro
NM_001382802.1:c.2983G>C	NP_001369731.1:p.Ala995Pro
NM_001382803.1:c.3118-313G>C	NP_001369732.1:n.3118-313G>C
NM_001382804.1:c.2413G>C	NP_001369733.1:p.Ala805Pro
NM_001382805.1:c.2290G>C	NP_001369734.1:p.Ala764Pro
NM_001382806.1:c.2203G>C	NP_001369735.1:p.Ala735Pro
NM_004448.4:c.3241G>C MANE Select	NP_004439.2:p.Ala1081Pro
NR_110535.2:n.3479G>C