Canonical Allele Identifier: CA399303033

Gene: ERBB2

Linked Data

• dbSNP Id: rs2145849223
• MyVariant Identifiers: chr17:g.37881033A>T (hg19) ; chr17:g.39724780A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724780A>T , CM000679.2:g.39724780A>T	GRCh38
NC_000017.10:g.37881033A>T , CM000679.1:g.37881033A>T	GRCh37
NC_000017.9:g.35134559A>T	NCBI36
NG_007503.1:g.41641A>T , LRG_724:g.41641A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2362A>T MANE Select	ENSP00000269571.4:p.Ile788Phe
ENST00000269571.9:c.2362A>T	ENSP00000269571.4:p.Ile788Phe
ENST00000406381.6:c.2272A>T	ENSP00000385185.2:p.Ile758Phe
ENST00000445658.6:c.1534A>T	ENSP00000404047.2:p.Ile512Phe
ENST00000541774.5:c.2317A>T	ENSP00000446466.1:p.Ile773Phe
ENST00000578373.5:c.*2152A>T	ENSP00000463427.1:n.*2152A>T
ENST00000580074.1:c.468A>T
ENST00000583038.5:n.3496A>T
ENST00000584450.5:c.2362A>T	ENSP00000463714.1:p.Ile788Phe
ENST00000584601.5:c.2272A>T	ENSP00000462438.1:p.Ile758Phe
NM_001005862.2:c.2272A>T , LRG_724t1:c.2272A>T	NP_001005862.1:p.Ile758Phe
NM_001289936.1:c.2317A>T , LRG_724t4:c.2317A>T	NP_001276865.1:p.Ile773Phe
NM_001289937.1:c.2362A>T	NP_001276866.1:p.Ile788Phe
NM_004448.3:c.2362A>T , LRG_724t2:c.2362A>T	NP_004439.2:p.Ile788Phe
NR_110535.1:n.2686A>T
XM_024450641.1:c.2500A>T	XP_024306409.1:p.Ile834Phe
XM_024450642.1:c.2455A>T	XP_024306410.1:p.Ile819Phe
XM_024450643.1:c.2410A>T	XP_024306411.1:p.Ile804Phe
NM_001005862.3:c.2272A>T	NP_001005862.1:p.Ile758Phe
NM_001289936.2:c.2317A>T	NP_001276865.1:p.Ile773Phe
NM_001289937.2:c.2362A>T	NP_001276866.1:p.Ile788Phe
NM_001382782.1:c.2272A>T	NP_001369711.1:p.Ile758Phe
NM_001382783.1:c.2272A>T	NP_001369712.1:p.Ile758Phe
NM_001382784.1:c.2479A>T	NP_001369713.1:p.Ile827Phe
NM_001382785.1:c.2464A>T	NP_001369714.1:p.Ile822Phe
NM_001382786.1:c.2443A>T	NP_001369715.1:p.Ile815Phe
NM_001382787.1:c.2437A>T	NP_001369716.1:p.Ile813Phe
NM_001382788.1:c.2392A>T	NP_001369717.1:p.Ile798Phe
NM_001382789.1:c.2383A>T	NP_001369718.1:p.Ile795Phe
NM_001382790.1:c.2359A>T	NP_001369719.1:p.Ile787Phe
NM_001382791.1:c.2353A>T	NP_001369720.1:p.Ile785Phe
NM_001382792.1:c.2326A>T	NP_001369721.1:p.Ile776Phe
NM_001382793.1:c.2320A>T	NP_001369722.1:p.Ile774Phe
NM_001382794.1:c.2320A>T	NP_001369723.1:p.Ile774Phe
NM_001382795.1:c.2314A>T	NP_001369724.1:p.Ile772Phe
NM_001382796.1:c.2362A>T	NP_001369725.1:p.Ile788Phe
NM_001382797.1:c.2263A>T	NP_001369726.1:p.Ile755Phe
NM_001382798.1:c.2362A>T	NP_001369727.1:p.Ile788Phe
NM_001382799.1:c.2182A>T	NP_001369728.1:p.Ile728Phe
NM_001382800.1:c.2308-269A>T	NP_001369729.1:n.2308-269A>T
NM_001382801.1:c.2314A>T	NP_001369730.1:p.Ile772Phe
NM_001382802.1:c.2104A>T	NP_001369731.1:p.Ile702Phe
NM_001382803.1:c.2320A>T	NP_001369732.1:p.Ile774Phe
NM_001382804.1:c.1534A>T	NP_001369733.1:p.Ile512Phe
NM_001382805.1:c.2208+1120A>T	NP_001369734.1:n.2208+1120A>T
NM_001382806.1:c.1324A>T	NP_001369735.1:p.Ile442Phe
NM_004448.4:c.2362A>T MANE Select	NP_004439.2:p.Ile788Phe
NR_110535.2:n.2600A>T