Canonical Allele Identifier: CA399303414

Gene: ERBB2

Linked Data

• MyVariant Identifiers: chr17:g.37881092A>C (hg19) ; chr17:g.39724839A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724839A>C , CM000679.2:g.39724839A>C	GRCh38
NC_000017.10:g.37881092A>C , CM000679.1:g.37881092A>C	GRCh37
NC_000017.9:g.35134618A>C	NCBI36
NG_007503.1:g.41700A>C , LRG_724:g.41700A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2421A>C MANE Select	ENSP00000269571.4:p.Leu807Phe
ENST00000269571.9:c.2421A>C	ENSP00000269571.4:p.Leu807Phe
ENST00000406381.6:c.2331A>C	ENSP00000385185.2:p.Leu777Phe
ENST00000445658.6:c.1593A>C	ENSP00000404047.2:p.Leu531Phe
ENST00000541774.5:c.2376A>C	ENSP00000446466.1:p.Leu792Phe
ENST00000578373.5:c.*2211A>C	ENSP00000463427.1:n.*2211A>C
ENST00000580074.1:c.527A>C
ENST00000583038.5:n.3555A>C
ENST00000584450.5:c.2421A>C	ENSP00000463714.1:p.Leu807Phe
ENST00000584601.5:c.2331A>C	ENSP00000462438.1:p.Leu777Phe
NM_001005862.2:c.2331A>C , LRG_724t1:c.2331A>C	NP_001005862.1:p.Leu777Phe
NM_001289936.1:c.2376A>C , LRG_724t4:c.2376A>C	NP_001276865.1:p.Leu792Phe
NM_001289937.1:c.2421A>C	NP_001276866.1:p.Leu807Phe
NM_004448.3:c.2421A>C , LRG_724t2:c.2421A>C	NP_004439.2:p.Leu807Phe
NR_110535.1:n.2745A>C
XM_024450641.1:c.2559A>C	XP_024306409.1:p.Leu853Phe
XM_024450642.1:c.2514A>C	XP_024306410.1:p.Leu838Phe
XM_024450643.1:c.2469A>C	XP_024306411.1:p.Leu823Phe
NM_001005862.3:c.2331A>C	NP_001005862.1:p.Leu777Phe
NM_001289936.2:c.2376A>C	NP_001276865.1:p.Leu792Phe
NM_001289937.2:c.2421A>C	NP_001276866.1:p.Leu807Phe
NM_001382782.1:c.2331A>C	NP_001369711.1:p.Leu777Phe
NM_001382783.1:c.2331A>C	NP_001369712.1:p.Leu777Phe
NM_001382784.1:c.2538A>C	NP_001369713.1:p.Leu846Phe
NM_001382785.1:c.2523A>C	NP_001369714.1:p.Leu841Phe
NM_001382786.1:c.2502A>C	NP_001369715.1:p.Leu834Phe
NM_001382787.1:c.2496A>C	NP_001369716.1:p.Leu832Phe
NM_001382788.1:c.2451A>C	NP_001369717.1:p.Leu817Phe
NM_001382789.1:c.2442A>C	NP_001369718.1:p.Leu814Phe
NM_001382790.1:c.2418A>C	NP_001369719.1:p.Leu806Phe
NM_001382791.1:c.2412A>C	NP_001369720.1:p.Leu804Phe
NM_001382792.1:c.2385A>C	NP_001369721.1:p.Leu795Phe
NM_001382793.1:c.2379A>C	NP_001369722.1:p.Leu793Phe
NM_001382794.1:c.2379A>C	NP_001369723.1:p.Leu793Phe
NM_001382795.1:c.2373A>C	NP_001369724.1:p.Leu791Phe
NM_001382796.1:c.2421A>C	NP_001369725.1:p.Leu807Phe
NM_001382797.1:c.2322A>C	NP_001369726.1:p.Leu774Phe
NM_001382798.1:c.2421A>C	NP_001369727.1:p.Leu807Phe
NM_001382799.1:c.2241A>C	NP_001369728.1:p.Leu747Phe
NM_001382800.1:c.2308-210A>C	NP_001369729.1:n.2308-210A>C
NM_001382801.1:c.2373A>C	NP_001369730.1:p.Leu791Phe
NM_001382802.1:c.2163A>C	NP_001369731.1:p.Leu721Phe
NM_001382803.1:c.2379A>C	NP_001369732.1:p.Leu793Phe
NM_001382804.1:c.1593A>C	NP_001369733.1:p.Leu531Phe
NM_001382805.1:c.2208+1179A>C	NP_001369734.1:n.2208+1179A>C
NM_001382806.1:c.1383A>C	NP_001369735.1:p.Leu461Phe
NM_004448.4:c.2421A>C MANE Select	NP_004439.2:p.Leu807Phe
NR_110535.2:n.2659A>C