Canonical Allele Identifier: CA290440567

Gene: ERBB2

Linked Data

• dbSNP Id: rs866679558
• gnomAD v4: 17-39724825-T-C
• MyVariant Identifiers: chr17:g.37881078T>C (hg19) ; chr17:g.39724825T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724825T>C , CM000679.2:g.39724825T>C	GRCh38
NC_000017.10:g.37881078T>C , CM000679.1:g.37881078T>C	GRCh37
NC_000017.9:g.35134604T>C	NCBI36
NG_007503.1:g.41686T>C , LRG_724:g.41686T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2407T>C MANE Select	ENSP00000269571.4:p.Tyr803His
ENST00000269571.9:c.2407T>C	ENSP00000269571.4:p.Tyr803His
ENST00000406381.6:c.2317T>C	ENSP00000385185.2:p.Tyr773His
ENST00000445658.6:c.1579T>C	ENSP00000404047.2:p.Tyr527His
ENST00000541774.5:c.2362T>C	ENSP00000446466.1:p.Tyr788His
ENST00000578373.5:c.*2197T>C	ENSP00000463427.1:n.*2197T>C
ENST00000580074.1:c.513T>C
ENST00000583038.5:n.3541T>C
ENST00000584450.5:c.2407T>C	ENSP00000463714.1:p.Tyr803His
ENST00000584601.5:c.2317T>C	ENSP00000462438.1:p.Tyr773His
NM_001005862.2:c.2317T>C , LRG_724t1:c.2317T>C	NP_001005862.1:p.Tyr773His
NM_001289936.1:c.2362T>C , LRG_724t4:c.2362T>C	NP_001276865.1:p.Tyr788His
NM_001289937.1:c.2407T>C	NP_001276866.1:p.Tyr803His
NM_004448.3:c.2407T>C , LRG_724t2:c.2407T>C	NP_004439.2:p.Tyr803His
NR_110535.1:n.2731T>C
XM_024450641.1:c.2545T>C	XP_024306409.1:p.Tyr849His
XM_024450642.1:c.2500T>C	XP_024306410.1:p.Tyr834His
XM_024450643.1:c.2455T>C	XP_024306411.1:p.Tyr819His
NM_001005862.3:c.2317T>C	NP_001005862.1:p.Tyr773His
NM_001289936.2:c.2362T>C	NP_001276865.1:p.Tyr788His
NM_001289937.2:c.2407T>C	NP_001276866.1:p.Tyr803His
NM_001382782.1:c.2317T>C	NP_001369711.1:p.Tyr773His
NM_001382783.1:c.2317T>C	NP_001369712.1:p.Tyr773His
NM_001382784.1:c.2524T>C	NP_001369713.1:p.Tyr842His
NM_001382785.1:c.2509T>C	NP_001369714.1:p.Tyr837His
NM_001382786.1:c.2488T>C	NP_001369715.1:p.Tyr830His
NM_001382787.1:c.2482T>C	NP_001369716.1:p.Tyr828His
NM_001382788.1:c.2437T>C	NP_001369717.1:p.Tyr813His
NM_001382789.1:c.2428T>C	NP_001369718.1:p.Tyr810His
NM_001382790.1:c.2404T>C	NP_001369719.1:p.Tyr802His
NM_001382791.1:c.2398T>C	NP_001369720.1:p.Tyr800His
NM_001382792.1:c.2371T>C	NP_001369721.1:p.Tyr791His
NM_001382793.1:c.2365T>C	NP_001369722.1:p.Tyr789His
NM_001382794.1:c.2365T>C	NP_001369723.1:p.Tyr789His
NM_001382795.1:c.2359T>C	NP_001369724.1:p.Tyr787His
NM_001382796.1:c.2407T>C	NP_001369725.1:p.Tyr803His
NM_001382797.1:c.2308T>C	NP_001369726.1:p.Tyr770His
NM_001382798.1:c.2407T>C	NP_001369727.1:p.Tyr803His
NM_001382799.1:c.2227T>C	NP_001369728.1:p.Tyr743His
NM_001382800.1:c.2308-224T>C	NP_001369729.1:n.2308-224T>C
NM_001382801.1:c.2359T>C	NP_001369730.1:p.Tyr787His
NM_001382802.1:c.2149T>C	NP_001369731.1:p.Tyr717His
NM_001382803.1:c.2365T>C	NP_001369732.1:p.Tyr789His
NM_001382804.1:c.1579T>C	NP_001369733.1:p.Tyr527His
NM_001382805.1:c.2208+1165T>C	NP_001369734.1:n.2208+1165T>C
NM_001382806.1:c.1369T>C	NP_001369735.1:p.Tyr457His
NM_004448.4:c.2407T>C MANE Select	NP_004439.2:p.Tyr803His
NR_110535.2:n.2645T>C