Canonical Allele Identifier: CA399303082

Gene: ERBB2

Linked Data

• dbSNP Id: rs2145849461
• MyVariant Identifiers: chr17:g.37881040T>A (hg19) ; chr17:g.39724787T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724787T>A , CM000679.2:g.39724787T>A	GRCh38
NC_000017.10:g.37881040T>A , CM000679.1:g.37881040T>A	GRCh37
NC_000017.9:g.35134566T>A	NCBI36
NG_007503.1:g.41648T>A , LRG_724:g.41648T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2369T>A MANE Select	ENSP00000269571.4:p.Leu790Gln
ENST00000269571.9:c.2369T>A	ENSP00000269571.4:p.Leu790Gln
ENST00000406381.6:c.2279T>A	ENSP00000385185.2:p.Leu760Gln
ENST00000445658.6:c.1541T>A	ENSP00000404047.2:p.Leu514Gln
ENST00000541774.5:c.2324T>A	ENSP00000446466.1:p.Leu775Gln
ENST00000578373.5:c.*2159T>A	ENSP00000463427.1:n.*2159T>A
ENST00000580074.1:c.475T>A
ENST00000583038.5:n.3503T>A
ENST00000584450.5:c.2369T>A	ENSP00000463714.1:p.Leu790Gln
ENST00000584601.5:c.2279T>A	ENSP00000462438.1:p.Leu760Gln
NM_001005862.2:c.2279T>A , LRG_724t1:c.2279T>A	NP_001005862.1:p.Leu760Gln
NM_001289936.1:c.2324T>A , LRG_724t4:c.2324T>A	NP_001276865.1:p.Leu775Gln
NM_001289937.1:c.2369T>A	NP_001276866.1:p.Leu790Gln
NM_004448.3:c.2369T>A , LRG_724t2:c.2369T>A	NP_004439.2:p.Leu790Gln
NR_110535.1:n.2693T>A
XM_024450641.1:c.2507T>A	XP_024306409.1:p.Leu836Gln
XM_024450642.1:c.2462T>A	XP_024306410.1:p.Leu821Gln
XM_024450643.1:c.2417T>A	XP_024306411.1:p.Leu806Gln
NM_001005862.3:c.2279T>A	NP_001005862.1:p.Leu760Gln
NM_001289936.2:c.2324T>A	NP_001276865.1:p.Leu775Gln
NM_001289937.2:c.2369T>A	NP_001276866.1:p.Leu790Gln
NM_001382782.1:c.2279T>A	NP_001369711.1:p.Leu760Gln
NM_001382783.1:c.2279T>A	NP_001369712.1:p.Leu760Gln
NM_001382784.1:c.2486T>A	NP_001369713.1:p.Leu829Gln
NM_001382785.1:c.2471T>A	NP_001369714.1:p.Leu824Gln
NM_001382786.1:c.2450T>A	NP_001369715.1:p.Leu817Gln
NM_001382787.1:c.2444T>A	NP_001369716.1:p.Leu815Gln
NM_001382788.1:c.2399T>A	NP_001369717.1:p.Leu800Gln
NM_001382789.1:c.2390T>A	NP_001369718.1:p.Leu797Gln
NM_001382790.1:c.2366T>A	NP_001369719.1:p.Leu789Gln
NM_001382791.1:c.2360T>A	NP_001369720.1:p.Leu787Gln
NM_001382792.1:c.2333T>A	NP_001369721.1:p.Leu778Gln
NM_001382793.1:c.2327T>A	NP_001369722.1:p.Leu776Gln
NM_001382794.1:c.2327T>A	NP_001369723.1:p.Leu776Gln
NM_001382795.1:c.2321T>A	NP_001369724.1:p.Leu774Gln
NM_001382796.1:c.2369T>A	NP_001369725.1:p.Leu790Gln
NM_001382797.1:c.2270T>A	NP_001369726.1:p.Leu757Gln
NM_001382798.1:c.2369T>A	NP_001369727.1:p.Leu790Gln
NM_001382799.1:c.2189T>A	NP_001369728.1:p.Leu730Gln
NM_001382800.1:c.2308-262T>A	NP_001369729.1:n.2308-262T>A
NM_001382801.1:c.2321T>A	NP_001369730.1:p.Leu774Gln
NM_001382802.1:c.2111T>A	NP_001369731.1:p.Leu704Gln
NM_001382803.1:c.2327T>A	NP_001369732.1:p.Leu776Gln
NM_001382804.1:c.1541T>A	NP_001369733.1:p.Leu514Gln
NM_001382805.1:c.2208+1127T>A	NP_001369734.1:n.2208+1127T>A
NM_001382806.1:c.1331T>A	NP_001369735.1:p.Leu444Gln
NM_004448.4:c.2369T>A MANE Select	NP_004439.2:p.Leu790Gln
NR_110535.2:n.2607T>A