Canonical Allele Identifier: CA399310503

Gene: ERBB2

Linked Data

• dbSNP Id: rs1449896791
• gnomAD v4: 17-39727382-T-G
• MyVariant Identifiers: chr17:g.37883635T>G (hg19) ; chr17:g.39727382T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727382T>G , CM000679.2:g.39727382T>G	GRCh38
NC_000017.10:g.37883635T>G , CM000679.1:g.37883635T>G	GRCh37
NC_000017.9:g.35137161T>G	NCBI36
NG_007503.1:g.44243T>G , LRG_724:g.44243T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3247T>G MANE Select	ENSP00000269571.4:p.Ser1083Ala
ENST00000269571.9:c.3247T>G	ENSP00000269571.4:p.Ser1083Ala
ENST00000406381.6:c.3157T>G	ENSP00000385185.2:p.Ser1053Ala
ENST00000445658.6:c.2419T>G	ENSP00000404047.2:p.Ser807Ala
ENST00000541774.5:c.3202T>G	ENSP00000446466.1:p.Ser1068Ala
ENST00000578373.5:c.*3037T>G	ENSP00000463427.1:n.*3037T>G
ENST00000584450.5:c.3160-307T>G	ENSP00000463714.1:n.3160-307T>G
ENST00000584601.5:c.3157T>G	ENSP00000462438.1:p.Ser1053Ala
NM_001005862.2:c.3157T>G , LRG_724t1:c.3157T>G	NP_001005862.1:p.Ser1053Ala
NM_001289936.1:c.3202T>G , LRG_724t4:c.3202T>G	NP_001276865.1:p.Ser1068Ala
NM_001289937.1:c.3160-307T>G	NP_001276866.1:n.3160-307T>G
NM_004448.3:c.3247T>G , LRG_724t2:c.3247T>G	NP_004439.2:p.Ser1083Ala
NR_110535.1:n.3571T>G
XM_024450641.1:c.3385T>G	XP_024306409.1:p.Ser1129Ala
XM_024450642.1:c.3340T>G	XP_024306410.1:p.Ser1114Ala
XM_024450643.1:c.3295T>G	XP_024306411.1:p.Ser1099Ala
NM_001005862.3:c.3157T>G	NP_001005862.1:p.Ser1053Ala
NM_001289936.2:c.3202T>G	NP_001276865.1:p.Ser1068Ala
NM_001289937.2:c.3160-307T>G	NP_001276866.1:n.3160-307T>G
NM_001382782.1:c.3157T>G	NP_001369711.1:p.Ser1053Ala
NM_001382783.1:c.3157T>G	NP_001369712.1:p.Ser1053Ala
NM_001382784.1:c.3364T>G	NP_001369713.1:p.Ser1122Ala
NM_001382785.1:c.3349T>G	NP_001369714.1:p.Ser1117Ala
NM_001382786.1:c.3328T>G	NP_001369715.1:p.Ser1110Ala
NM_001382787.1:c.3322T>G	NP_001369716.1:p.Ser1108Ala
NM_001382788.1:c.3277T>G	NP_001369717.1:p.Ser1093Ala
NM_001382789.1:c.3268T>G	NP_001369718.1:p.Ser1090Ala
NM_001382790.1:c.3244T>G	NP_001369719.1:p.Ser1082Ala
NM_001382791.1:c.3238T>G	NP_001369720.1:p.Ser1080Ala
NM_001382792.1:c.3211T>G	NP_001369721.1:p.Ser1071Ala
NM_001382793.1:c.3205T>G	NP_001369722.1:p.Ser1069Ala
NM_001382794.1:c.3205T>G	NP_001369723.1:p.Ser1069Ala
NM_001382795.1:c.3199T>G	NP_001369724.1:p.Ser1067Ala
NM_001382796.1:c.3160T>G	NP_001369725.1:p.Ser1054Ala
NM_001382797.1:c.3148T>G	NP_001369726.1:p.Ser1050Ala
NM_001382798.1:c.3091T>G	NP_001369727.1:p.Ser1031Ala
NM_001382799.1:c.3067T>G	NP_001369728.1:p.Ser1023Ala
NM_001382800.1:c.3061T>G	NP_001369729.1:p.Ser1021Ala
NM_001382801.1:c.3043T>G	NP_001369730.1:p.Ser1015Ala
NM_001382802.1:c.2989T>G	NP_001369731.1:p.Ser997Ala
NM_001382803.1:c.3118-307T>G	NP_001369732.1:n.3118-307T>G
NM_001382804.1:c.2419T>G	NP_001369733.1:p.Ser807Ala
NM_001382805.1:c.2296T>G	NP_001369734.1:p.Ser766Ala
NM_001382806.1:c.2209T>G	NP_001369735.1:p.Ser737Ala
NM_004448.4:c.3247T>G MANE Select	NP_004439.2:p.Ser1083Ala
NR_110535.2:n.3485T>G