Canonical Allele Identifier: CA399304283

Gene: ERBB2

Linked Data

• dbSNP Id: rs1057519738
• gnomAD v4: 17-39725079-G-T
• MyVariant Identifiers: chr17:g.37881332G>T (hg19) ; chr17:g.39725079G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39725079G>T , CM000679.2:g.39725079G>T	GRCh38
NC_000017.10:g.37881332G>T , CM000679.1:g.37881332G>T	GRCh37
NC_000017.9:g.35134858G>T	NCBI36
NG_007503.1:g.41940G>T , LRG_724:g.41940G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269571.10:c.2524G>T MANE Select	ENSP00000269571.4:p.Val842Leu
ENST00000269571.9:c.2524G>T	ENSP00000269571.4:p.Val842Leu
ENST00000406381.6:c.2434G>T	ENSP00000385185.2:p.Val812Leu
ENST00000445658.6:c.1696G>T	ENSP00000404047.2:p.Val566Leu
ENST00000541774.5:c.2479G>T	ENSP00000446466.1:p.Val827Leu
ENST00000578373.5:c.*2314G>T	ENSP00000463427.1:n.*2314G>T
ENST00000580074.1:c.630G>T
ENST00000583038.5:n.3658G>T
ENST00000584450.5:c.2524G>T	ENSP00000463714.1:p.Val842Leu
ENST00000584601.5:c.2434G>T	ENSP00000462438.1:p.Val812Leu
NM_001005862.2:c.2434G>T , LRG_724t1:c.2434G>T	NP_001005862.1:p.Val812Leu
NM_001289936.1:c.2479G>T , LRG_724t4:c.2479G>T	NP_001276865.1:p.Val827Leu
NM_001289937.1:c.2524G>T	NP_001276866.1:p.Val842Leu
NM_004448.3:c.2524G>T , LRG_724t2:c.2524G>T	NP_004439.2:p.Val842Leu
NR_110535.1:n.2848G>T
XM_024450641.1:c.2662G>T	XP_024306409.1:p.Val888Leu
XM_024450642.1:c.2617G>T	XP_024306410.1:p.Val873Leu
XM_024450643.1:c.2572G>T	XP_024306411.1:p.Val858Leu
NM_001005862.3:c.2434G>T	NP_001005862.1:p.Val812Leu
NM_001289936.2:c.2479G>T	NP_001276865.1:p.Val827Leu
NM_001289937.2:c.2524G>T	NP_001276866.1:p.Val842Leu
NM_001382782.1:c.2434G>T	NP_001369711.1:p.Val812Leu
NM_001382783.1:c.2434G>T	NP_001369712.1:p.Val812Leu
NM_001382784.1:c.2641G>T	NP_001369713.1:p.Val881Leu
NM_001382785.1:c.2626G>T	NP_001369714.1:p.Val876Leu
NM_001382786.1:c.2605G>T	NP_001369715.1:p.Val869Leu
NM_001382787.1:c.2599G>T	NP_001369716.1:p.Val867Leu
NM_001382788.1:c.2554G>T	NP_001369717.1:p.Val852Leu
NM_001382789.1:c.2545G>T	NP_001369718.1:p.Val849Leu
NM_001382790.1:c.2521G>T	NP_001369719.1:p.Val841Leu
NM_001382791.1:c.2515G>T	NP_001369720.1:p.Val839Leu
NM_001382792.1:c.2488G>T	NP_001369721.1:p.Val830Leu
NM_001382793.1:c.2482G>T	NP_001369722.1:p.Val828Leu
NM_001382794.1:c.2482G>T	NP_001369723.1:p.Val828Leu
NM_001382795.1:c.2476G>T	NP_001369724.1:p.Val826Leu
NM_001382796.1:c.2524G>T	NP_001369725.1:p.Val842Leu
NM_001382797.1:c.2425G>T	NP_001369726.1:p.Val809Leu
NM_001382798.1:c.2493+168G>T	NP_001369727.1:n.2493+168G>T
NM_001382799.1:c.2344G>T	NP_001369728.1:p.Val782Leu
NM_001382800.1:c.2338G>T	NP_001369729.1:p.Val780Leu
NM_001382801.1:c.2445+168G>T	NP_001369730.1:n.2445+168G>T
NM_001382802.1:c.2266G>T	NP_001369731.1:p.Val756Leu
NM_001382803.1:c.2482G>T	NP_001369732.1:p.Val828Leu
NM_001382804.1:c.1696G>T	NP_001369733.1:p.Val566Leu
NM_001382805.1:c.2208+1419G>T	NP_001369734.1:n.2208+1419G>T
NM_001382806.1:c.1486G>T	NP_001369735.1:p.Val496Leu
NM_004448.4:c.2524G>T MANE Select	NP_004439.2:p.Val842Leu
NR_110535.2:n.2762G>T