Canonical Allele Identifier: CA399303030

Gene: ERBB2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000269571.10:c.2362A>C MANE Select	ENSP00000269571.4:p.Ile788Leu
ENST00000269571.9:c.2362A>C	ENSP00000269571.4:p.Ile788Leu
ENST00000406381.6:c.2272A>C	ENSP00000385185.2:p.Ile758Leu
ENST00000445658.6:c.1534A>C	ENSP00000404047.2:p.Ile512Leu
ENST00000541774.5:c.2317A>C	ENSP00000446466.1:p.Ile773Leu
ENST00000578373.5:c.*2152A>C	ENSP00000463427.1:n.*2152A>C
ENST00000580074.1:c.468A>C
ENST00000583038.5:n.3496A>C
ENST00000584450.5:c.2362A>C	ENSP00000463714.1:p.Ile788Leu
ENST00000584601.5:c.2272A>C	ENSP00000462438.1:p.Ile758Leu
NM_001005862.2:c.2272A>C , LRG_724t1:c.2272A>C	NP_001005862.1:p.Ile758Leu
NM_001289936.1:c.2317A>C , LRG_724t4:c.2317A>C	NP_001276865.1:p.Ile773Leu
NM_001289937.1:c.2362A>C	NP_001276866.1:p.Ile788Leu
NM_004448.3:c.2362A>C , LRG_724t2:c.2362A>C	NP_004439.2:p.Ile788Leu
NR_110535.1:n.2686A>C
XM_024450641.1:c.2500A>C	XP_024306409.1:p.Ile834Leu
XM_024450642.1:c.2455A>C	XP_024306410.1:p.Ile819Leu
XM_024450643.1:c.2410A>C	XP_024306411.1:p.Ile804Leu
NM_001005862.3:c.2272A>C	NP_001005862.1:p.Ile758Leu
NM_001289936.2:c.2317A>C	NP_001276865.1:p.Ile773Leu
NM_001289937.2:c.2362A>C	NP_001276866.1:p.Ile788Leu
NM_001382782.1:c.2272A>C	NP_001369711.1:p.Ile758Leu
NM_001382783.1:c.2272A>C	NP_001369712.1:p.Ile758Leu
NM_001382784.1:c.2479A>C	NP_001369713.1:p.Ile827Leu
NM_001382785.1:c.2464A>C	NP_001369714.1:p.Ile822Leu
NM_001382786.1:c.2443A>C	NP_001369715.1:p.Ile815Leu
NM_001382787.1:c.2437A>C	NP_001369716.1:p.Ile813Leu
NM_001382788.1:c.2392A>C	NP_001369717.1:p.Ile798Leu
NM_001382789.1:c.2383A>C	NP_001369718.1:p.Ile795Leu
NM_001382790.1:c.2359A>C	NP_001369719.1:p.Ile787Leu
NM_001382791.1:c.2353A>C	NP_001369720.1:p.Ile785Leu
NM_001382792.1:c.2326A>C	NP_001369721.1:p.Ile776Leu
NM_001382793.1:c.2320A>C	NP_001369722.1:p.Ile774Leu
NM_001382794.1:c.2320A>C	NP_001369723.1:p.Ile774Leu
NM_001382795.1:c.2314A>C	NP_001369724.1:p.Ile772Leu
NM_001382796.1:c.2362A>C	NP_001369725.1:p.Ile788Leu
NM_001382797.1:c.2263A>C	NP_001369726.1:p.Ile755Leu
NM_001382798.1:c.2362A>C	NP_001369727.1:p.Ile788Leu
NM_001382799.1:c.2182A>C	NP_001369728.1:p.Ile728Leu
NM_001382800.1:c.2308-269A>C	NP_001369729.1:n.2308-269A>C
NM_001382801.1:c.2314A>C	NP_001369730.1:p.Ile772Leu
NM_001382802.1:c.2104A>C	NP_001369731.1:p.Ile702Leu
NM_001382803.1:c.2320A>C	NP_001369732.1:p.Ile774Leu
NM_001382804.1:c.1534A>C	NP_001369733.1:p.Ile512Leu
NM_001382805.1:c.2208+1120A>C	NP_001369734.1:n.2208+1120A>C
NM_001382806.1:c.1324A>C	NP_001369735.1:p.Ile442Leu
NM_004448.4:c.2362A>C MANE Select	NP_004439.2:p.Ile788Leu
NR_110535.2:n.2600A>C