Canonical Allele Identifier: CA499670855

Gene: ERBB2

Linked Data

• ClinVar Variation Id: 1556395
• ClinVar RCV Id: RCV002202249
• dbSNP Id: rs1567913003
• gnomAD v4: 17-39724764-C-T
• MyVariant Identifiers: chr17:g.37881017C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724764C>T , CM000679.2:g.39724764C>T	GRCh38
NC_000017.10:g.37881017C>T , CM000679.1:g.37881017C>T	GRCh37
NC_000017.9:g.35134543C>T	NCBI36
NG_007503.1:g.41625C>T , LRG_724:g.41625C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269571.10:c.2346C>T MANE Select	ENSP00000269571.4:p.Val782=
ENST00000269571.9:c.2346C>T	ENSP00000269571.4:p.Val782=
ENST00000406381.6:c.2256C>T	ENSP00000385185.2:p.Val752=
ENST00000445658.6:c.1518C>T	ENSP00000404047.2:p.Val506=
ENST00000541774.5:c.2301C>T	ENSP00000446466.1:p.Val767=
ENST00000578373.5:c.*2136C>T	ENSP00000463427.1:n.*2136C>T
ENST00000580074.1:c.452C>T
ENST00000583038.5:n.3480C>T
ENST00000584450.5:c.2346C>T	ENSP00000463714.1:p.Val782=
ENST00000584601.5:c.2256C>T	ENSP00000462438.1:p.Val752=
NM_001005862.2:c.2256C>T , LRG_724t1:c.2256C>T	NP_001005862.1:p.Val752=
NM_001289936.1:c.2301C>T , LRG_724t4:c.2301C>T	NP_001276865.1:p.Val767=
NM_001289937.1:c.2346C>T	NP_001276866.1:p.Val782=
NM_004448.3:c.2346C>T , LRG_724t2:c.2346C>T	NP_004439.2:p.Val782=
NR_110535.1:n.2670C>T
XM_024450641.1:c.2484C>T	XP_024306409.1:p.Val828=
XM_024450642.1:c.2439C>T	XP_024306410.1:p.Val813=
XM_024450643.1:c.2394C>T	XP_024306411.1:p.Val798=
NM_001005862.3:c.2256C>T	NP_001005862.1:p.Val752=
NM_001289936.2:c.2301C>T	NP_001276865.1:p.Val767=
NM_001289937.2:c.2346C>T	NP_001276866.1:p.Val782=
NM_001382782.1:c.2256C>T	NP_001369711.1:p.Val752=
NM_001382783.1:c.2256C>T	NP_001369712.1:p.Val752=
NM_001382784.1:c.2463C>T	NP_001369713.1:p.Val821=
NM_001382785.1:c.2448C>T	NP_001369714.1:p.Val816=
NM_001382786.1:c.2427C>T	NP_001369715.1:p.Val809=
NM_001382787.1:c.2421C>T	NP_001369716.1:p.Val807=
NM_001382788.1:c.2376C>T	NP_001369717.1:p.Val792=
NM_001382789.1:c.2367C>T	NP_001369718.1:p.Val789=
NM_001382790.1:c.2343C>T	NP_001369719.1:p.Val781=
NM_001382791.1:c.2337C>T	NP_001369720.1:p.Val779=
NM_001382792.1:c.2310C>T	NP_001369721.1:p.Val770=
NM_001382793.1:c.2304C>T	NP_001369722.1:p.Val768=
NM_001382794.1:c.2304C>T	NP_001369723.1:p.Val768=
NM_001382795.1:c.2298C>T	NP_001369724.1:p.Val766=
NM_001382796.1:c.2346C>T	NP_001369725.1:p.Val782=
NM_001382797.1:c.2247C>T	NP_001369726.1:p.Val749=
NM_001382798.1:c.2346C>T	NP_001369727.1:p.Val782=
NM_001382799.1:c.2166C>T	NP_001369728.1:p.Val722=
NM_001382800.1:c.2308-285C>T	NP_001369729.1:n.2308-285C>T
NM_001382801.1:c.2298C>T	NP_001369730.1:p.Val766=
NM_001382802.1:c.2088C>T	NP_001369731.1:p.Val696=
NM_001382803.1:c.2304C>T	NP_001369732.1:p.Val768=
NM_001382804.1:c.1518C>T	NP_001369733.1:p.Val506=
NM_001382805.1:c.2208+1104C>T	NP_001369734.1:n.2208+1104C>T
NM_001382806.1:c.1308C>T	NP_001369735.1:p.Val436=
NM_004448.4:c.2346C>T MANE Select	NP_004439.2:p.Val782=
NR_110535.2:n.2584C>T