Canonical Allele Identifier: CA399303097

Gene: ERBB2

Linked Data

• dbSNP Id: rs2145849591
• MyVariant Identifiers: chr17:g.37881043C>A (hg19) ; chr17:g.39724790C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724790C>A , CM000679.2:g.39724790C>A	GRCh38
NC_000017.10:g.37881043C>A , CM000679.1:g.37881043C>A	GRCh37
NC_000017.9:g.35134569C>A	NCBI36
NG_007503.1:g.41651C>A , LRG_724:g.41651C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2372C>A MANE Select	ENSP00000269571.4:p.Thr791Lys
ENST00000269571.9:c.2372C>A	ENSP00000269571.4:p.Thr791Lys
ENST00000406381.6:c.2282C>A	ENSP00000385185.2:p.Thr761Lys
ENST00000445658.6:c.1544C>A	ENSP00000404047.2:p.Thr515Lys
ENST00000541774.5:c.2327C>A	ENSP00000446466.1:p.Thr776Lys
ENST00000578373.5:c.*2162C>A	ENSP00000463427.1:n.*2162C>A
ENST00000580074.1:c.478C>A
ENST00000583038.5:n.3506C>A
ENST00000584450.5:c.2372C>A	ENSP00000463714.1:p.Thr791Lys
ENST00000584601.5:c.2282C>A	ENSP00000462438.1:p.Thr761Lys
NM_001005862.2:c.2282C>A , LRG_724t1:c.2282C>A	NP_001005862.1:p.Thr761Lys
NM_001289936.1:c.2327C>A , LRG_724t4:c.2327C>A	NP_001276865.1:p.Thr776Lys
NM_001289937.1:c.2372C>A	NP_001276866.1:p.Thr791Lys
NM_004448.3:c.2372C>A , LRG_724t2:c.2372C>A	NP_004439.2:p.Thr791Lys
NR_110535.1:n.2696C>A
XM_024450641.1:c.2510C>A	XP_024306409.1:p.Thr837Lys
XM_024450642.1:c.2465C>A	XP_024306410.1:p.Thr822Lys
XM_024450643.1:c.2420C>A	XP_024306411.1:p.Thr807Lys
NM_001005862.3:c.2282C>A	NP_001005862.1:p.Thr761Lys
NM_001289936.2:c.2327C>A	NP_001276865.1:p.Thr776Lys
NM_001289937.2:c.2372C>A	NP_001276866.1:p.Thr791Lys
NM_001382782.1:c.2282C>A	NP_001369711.1:p.Thr761Lys
NM_001382783.1:c.2282C>A	NP_001369712.1:p.Thr761Lys
NM_001382784.1:c.2489C>A	NP_001369713.1:p.Thr830Lys
NM_001382785.1:c.2474C>A	NP_001369714.1:p.Thr825Lys
NM_001382786.1:c.2453C>A	NP_001369715.1:p.Thr818Lys
NM_001382787.1:c.2447C>A	NP_001369716.1:p.Thr816Lys
NM_001382788.1:c.2402C>A	NP_001369717.1:p.Thr801Lys
NM_001382789.1:c.2393C>A	NP_001369718.1:p.Thr798Lys
NM_001382790.1:c.2369C>A	NP_001369719.1:p.Thr790Lys
NM_001382791.1:c.2363C>A	NP_001369720.1:p.Thr788Lys
NM_001382792.1:c.2336C>A	NP_001369721.1:p.Thr779Lys
NM_001382793.1:c.2330C>A	NP_001369722.1:p.Thr777Lys
NM_001382794.1:c.2330C>A	NP_001369723.1:p.Thr777Lys
NM_001382795.1:c.2324C>A	NP_001369724.1:p.Thr775Lys
NM_001382796.1:c.2372C>A	NP_001369725.1:p.Thr791Lys
NM_001382797.1:c.2273C>A	NP_001369726.1:p.Thr758Lys
NM_001382798.1:c.2372C>A	NP_001369727.1:p.Thr791Lys
NM_001382799.1:c.2192C>A	NP_001369728.1:p.Thr731Lys
NM_001382800.1:c.2308-259C>A	NP_001369729.1:n.2308-259C>A
NM_001382801.1:c.2324C>A	NP_001369730.1:p.Thr775Lys
NM_001382802.1:c.2114C>A	NP_001369731.1:p.Thr705Lys
NM_001382803.1:c.2330C>A	NP_001369732.1:p.Thr777Lys
NM_001382804.1:c.1544C>A	NP_001369733.1:p.Thr515Lys
NM_001382805.1:c.2208+1130C>A	NP_001369734.1:n.2208+1130C>A
NM_001382806.1:c.1334C>A	NP_001369735.1:p.Thr445Lys
NM_004448.4:c.2372C>A MANE Select	NP_004439.2:p.Thr791Lys
NR_110535.2:n.2610C>A