Canonical Allele Identifier: CA399310513

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143241944
• MyVariant Identifiers: chr17:g.37883636C>T (hg19) ; chr17:g.39727383C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727383C>T , CM000679.2:g.39727383C>T	GRCh38
NC_000017.10:g.37883636C>T , CM000679.1:g.37883636C>T	GRCh37
NC_000017.9:g.35137162C>T	NCBI36
NG_007503.1:g.44244C>T , LRG_724:g.44244C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3248C>T MANE Select	ENSP00000269571.4:p.Ser1083Phe
ENST00000269571.9:c.3248C>T	ENSP00000269571.4:p.Ser1083Phe
ENST00000406381.6:c.3158C>T	ENSP00000385185.2:p.Ser1053Phe
ENST00000445658.6:c.2420C>T	ENSP00000404047.2:p.Ser807Phe
ENST00000541774.5:c.3203C>T	ENSP00000446466.1:p.Ser1068Phe
ENST00000578373.5:c.*3038C>T	ENSP00000463427.1:n.*3038C>T
ENST00000584450.5:c.3160-306C>T	ENSP00000463714.1:n.3160-306C>T
ENST00000584601.5:c.3158C>T	ENSP00000462438.1:p.Ser1053Phe
NM_001005862.2:c.3158C>T , LRG_724t1:c.3158C>T	NP_001005862.1:p.Ser1053Phe
NM_001289936.1:c.3203C>T , LRG_724t4:c.3203C>T	NP_001276865.1:p.Ser1068Phe
NM_001289937.1:c.3160-306C>T	NP_001276866.1:n.3160-306C>T
NM_004448.3:c.3248C>T , LRG_724t2:c.3248C>T	NP_004439.2:p.Ser1083Phe
NR_110535.1:n.3572C>T
XM_024450641.1:c.3386C>T	XP_024306409.1:p.Ser1129Phe
XM_024450642.1:c.3341C>T	XP_024306410.1:p.Ser1114Phe
XM_024450643.1:c.3296C>T	XP_024306411.1:p.Ser1099Phe
NM_001005862.3:c.3158C>T	NP_001005862.1:p.Ser1053Phe
NM_001289936.2:c.3203C>T	NP_001276865.1:p.Ser1068Phe
NM_001289937.2:c.3160-306C>T	NP_001276866.1:n.3160-306C>T
NM_001382782.1:c.3158C>T	NP_001369711.1:p.Ser1053Phe
NM_001382783.1:c.3158C>T	NP_001369712.1:p.Ser1053Phe
NM_001382784.1:c.3365C>T	NP_001369713.1:p.Ser1122Phe
NM_001382785.1:c.3350C>T	NP_001369714.1:p.Ser1117Phe
NM_001382786.1:c.3329C>T	NP_001369715.1:p.Ser1110Phe
NM_001382787.1:c.3323C>T	NP_001369716.1:p.Ser1108Phe
NM_001382788.1:c.3278C>T	NP_001369717.1:p.Ser1093Phe
NM_001382789.1:c.3269C>T	NP_001369718.1:p.Ser1090Phe
NM_001382790.1:c.3245C>T	NP_001369719.1:p.Ser1082Phe
NM_001382791.1:c.3239C>T	NP_001369720.1:p.Ser1080Phe
NM_001382792.1:c.3212C>T	NP_001369721.1:p.Ser1071Phe
NM_001382793.1:c.3206C>T	NP_001369722.1:p.Ser1069Phe
NM_001382794.1:c.3206C>T	NP_001369723.1:p.Ser1069Phe
NM_001382795.1:c.3200C>T	NP_001369724.1:p.Ser1067Phe
NM_001382796.1:c.3161C>T	NP_001369725.1:p.Ser1054Phe
NM_001382797.1:c.3149C>T	NP_001369726.1:p.Ser1050Phe
NM_001382798.1:c.3092C>T	NP_001369727.1:p.Ser1031Phe
NM_001382799.1:c.3068C>T	NP_001369728.1:p.Ser1023Phe
NM_001382800.1:c.3062C>T	NP_001369729.1:p.Ser1021Phe
NM_001382801.1:c.3044C>T	NP_001369730.1:p.Ser1015Phe
NM_001382802.1:c.2990C>T	NP_001369731.1:p.Ser997Phe
NM_001382803.1:c.3118-306C>T	NP_001369732.1:n.3118-306C>T
NM_001382804.1:c.2420C>T	NP_001369733.1:p.Ser807Phe
NM_001382805.1:c.2297C>T	NP_001369734.1:p.Ser766Phe
NM_001382806.1:c.2210C>T	NP_001369735.1:p.Ser737Phe
NM_004448.4:c.3248C>T MANE Select	NP_004439.2:p.Ser1083Phe
NR_110535.2:n.3486C>T