Canonical Allele Identifier: CA399302886

Gene: ERBB2

Linked Data

• dbSNP Id: rs1419499014
• gnomAD v2: 17-37881009-C-T
• COSMIC: COSM6197839
• MyVariant Identifiers: chr17:g.37881009C>T (hg19) ; chr17:g.39724756C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2338C>T MANE Select	ENSP00000269571.4:p.Pro780Ser
ENST00000269571.9:c.2338C>T	ENSP00000269571.4:p.Pro780Ser
ENST00000406381.6:c.2248C>T	ENSP00000385185.2:p.Pro750Ser
ENST00000445658.6:c.1510C>T	ENSP00000404047.2:p.Pro504Ser
ENST00000541774.5:c.2293C>T	ENSP00000446466.1:p.Pro765Ser
ENST00000578373.5:c.*2128C>T	ENSP00000463427.1:n.*2128C>T
ENST00000580074.1:c.444C>T
ENST00000583038.5:n.3472C>T
ENST00000584450.5:c.2338C>T	ENSP00000463714.1:p.Pro780Ser
ENST00000584601.5:c.2248C>T	ENSP00000462438.1:p.Pro750Ser
NM_001005862.2:c.2248C>T , LRG_724t1:c.2248C>T	NP_001005862.1:p.Pro750Ser
NM_001289936.1:c.2293C>T , LRG_724t4:c.2293C>T	NP_001276865.1:p.Pro765Ser
NM_001289937.1:c.2338C>T	NP_001276866.1:p.Pro780Ser
NM_004448.3:c.2338C>T , LRG_724t2:c.2338C>T	NP_004439.2:p.Pro780Ser
NR_110535.1:n.2662C>T
XM_024450641.1:c.2476C>T	XP_024306409.1:p.Pro826Ser
XM_024450642.1:c.2431C>T	XP_024306410.1:p.Pro811Ser
XM_024450643.1:c.2386C>T	XP_024306411.1:p.Pro796Ser
NM_001005862.3:c.2248C>T	NP_001005862.1:p.Pro750Ser
NM_001289936.2:c.2293C>T	NP_001276865.1:p.Pro765Ser
NM_001289937.2:c.2338C>T	NP_001276866.1:p.Pro780Ser
NM_001382782.1:c.2248C>T	NP_001369711.1:p.Pro750Ser
NM_001382783.1:c.2248C>T	NP_001369712.1:p.Pro750Ser
NM_001382784.1:c.2455C>T	NP_001369713.1:p.Pro819Ser
NM_001382785.1:c.2440C>T	NP_001369714.1:p.Pro814Ser
NM_001382786.1:c.2419C>T	NP_001369715.1:p.Pro807Ser
NM_001382787.1:c.2413C>T	NP_001369716.1:p.Pro805Ser
NM_001382788.1:c.2368C>T	NP_001369717.1:p.Pro790Ser
NM_001382789.1:c.2359C>T	NP_001369718.1:p.Pro787Ser
NM_001382790.1:c.2335C>T	NP_001369719.1:p.Pro779Ser
NM_001382791.1:c.2329C>T	NP_001369720.1:p.Pro777Ser
NM_001382792.1:c.2302C>T	NP_001369721.1:p.Pro768Ser
NM_001382793.1:c.2296C>T	NP_001369722.1:p.Pro766Ser
NM_001382794.1:c.2296C>T	NP_001369723.1:p.Pro766Ser
NM_001382795.1:c.2290C>T	NP_001369724.1:p.Pro764Ser
NM_001382796.1:c.2338C>T	NP_001369725.1:p.Pro780Ser
NM_001382797.1:c.2239C>T	NP_001369726.1:p.Pro747Ser
NM_001382798.1:c.2338C>T	NP_001369727.1:p.Pro780Ser
NM_001382799.1:c.2158C>T	NP_001369728.1:p.Pro720Ser
NM_001382800.1:c.2308-293C>T	NP_001369729.1:n.2308-293C>T
NM_001382801.1:c.2290C>T	NP_001369730.1:p.Pro764Ser
NM_001382802.1:c.2080C>T	NP_001369731.1:p.Pro694Ser
NM_001382803.1:c.2296C>T	NP_001369732.1:p.Pro766Ser
NM_001382804.1:c.1510C>T	NP_001369733.1:p.Pro504Ser
NM_001382805.1:c.2208+1096C>T	NP_001369734.1:n.2208+1096C>T
NM_001382806.1:c.1300C>T	NP_001369735.1:p.Pro434Ser
NM_004448.4:c.2338C>T MANE Select	NP_004439.2:p.Pro780Ser
NR_110535.2:n.2576C>T