Canonical Allele Identifier: CA399302884

Gene: ERBB2

Linked Data

• dbSNP Id: rs1419499014
• COSMIC: COSM5967126
• MyVariant Identifiers: chr17:g.37881009C>A (hg19) ; chr17:g.39724756C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724756C>A , CM000679.2:g.39724756C>A	GRCh38
NC_000017.10:g.37881009C>A , CM000679.1:g.37881009C>A	GRCh37
NC_000017.9:g.35134535C>A	NCBI36
NG_007503.1:g.41617C>A , LRG_724:g.41617C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2338C>A MANE Select	ENSP00000269571.4:p.Pro780Thr
ENST00000269571.9:c.2338C>A	ENSP00000269571.4:p.Pro780Thr
ENST00000406381.6:c.2248C>A	ENSP00000385185.2:p.Pro750Thr
ENST00000445658.6:c.1510C>A	ENSP00000404047.2:p.Pro504Thr
ENST00000541774.5:c.2293C>A	ENSP00000446466.1:p.Pro765Thr
ENST00000578373.5:c.*2128C>A	ENSP00000463427.1:n.*2128C>A
ENST00000580074.1:c.444C>A
ENST00000583038.5:n.3472C>A
ENST00000584450.5:c.2338C>A	ENSP00000463714.1:p.Pro780Thr
ENST00000584601.5:c.2248C>A	ENSP00000462438.1:p.Pro750Thr
NM_001005862.2:c.2248C>A , LRG_724t1:c.2248C>A	NP_001005862.1:p.Pro750Thr
NM_001289936.1:c.2293C>A , LRG_724t4:c.2293C>A	NP_001276865.1:p.Pro765Thr
NM_001289937.1:c.2338C>A	NP_001276866.1:p.Pro780Thr
NM_004448.3:c.2338C>A , LRG_724t2:c.2338C>A	NP_004439.2:p.Pro780Thr
NR_110535.1:n.2662C>A
XM_024450641.1:c.2476C>A	XP_024306409.1:p.Pro826Thr
XM_024450642.1:c.2431C>A	XP_024306410.1:p.Pro811Thr
XM_024450643.1:c.2386C>A	XP_024306411.1:p.Pro796Thr
NM_001005862.3:c.2248C>A	NP_001005862.1:p.Pro750Thr
NM_001289936.2:c.2293C>A	NP_001276865.1:p.Pro765Thr
NM_001289937.2:c.2338C>A	NP_001276866.1:p.Pro780Thr
NM_001382782.1:c.2248C>A	NP_001369711.1:p.Pro750Thr
NM_001382783.1:c.2248C>A	NP_001369712.1:p.Pro750Thr
NM_001382784.1:c.2455C>A	NP_001369713.1:p.Pro819Thr
NM_001382785.1:c.2440C>A	NP_001369714.1:p.Pro814Thr
NM_001382786.1:c.2419C>A	NP_001369715.1:p.Pro807Thr
NM_001382787.1:c.2413C>A	NP_001369716.1:p.Pro805Thr
NM_001382788.1:c.2368C>A	NP_001369717.1:p.Pro790Thr
NM_001382789.1:c.2359C>A	NP_001369718.1:p.Pro787Thr
NM_001382790.1:c.2335C>A	NP_001369719.1:p.Pro779Thr
NM_001382791.1:c.2329C>A	NP_001369720.1:p.Pro777Thr
NM_001382792.1:c.2302C>A	NP_001369721.1:p.Pro768Thr
NM_001382793.1:c.2296C>A	NP_001369722.1:p.Pro766Thr
NM_001382794.1:c.2296C>A	NP_001369723.1:p.Pro766Thr
NM_001382795.1:c.2290C>A	NP_001369724.1:p.Pro764Thr
NM_001382796.1:c.2338C>A	NP_001369725.1:p.Pro780Thr
NM_001382797.1:c.2239C>A	NP_001369726.1:p.Pro747Thr
NM_001382798.1:c.2338C>A	NP_001369727.1:p.Pro780Thr
NM_001382799.1:c.2158C>A	NP_001369728.1:p.Pro720Thr
NM_001382800.1:c.2308-293C>A	NP_001369729.1:n.2308-293C>A
NM_001382801.1:c.2290C>A	NP_001369730.1:p.Pro764Thr
NM_001382802.1:c.2080C>A	NP_001369731.1:p.Pro694Thr
NM_001382803.1:c.2296C>A	NP_001369732.1:p.Pro766Thr
NM_001382804.1:c.1510C>A	NP_001369733.1:p.Pro504Thr
NM_001382805.1:c.2208+1096C>A	NP_001369734.1:n.2208+1096C>A
NM_001382806.1:c.1300C>A	NP_001369735.1:p.Pro434Thr
NM_004448.4:c.2338C>A MANE Select	NP_004439.2:p.Pro780Thr
NR_110535.2:n.2576C>A