Canonical Allele Identifier: CA399304346

Gene: ERBB2

Linked Data

• dbSNP Id: rs2145863521
• MyVariant Identifiers: chr17:g.37881339G>C (hg19) ; chr17:g.39725086G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39725086G>C , CM000679.2:g.39725086G>C	GRCh38
NC_000017.10:g.37881339G>C , CM000679.1:g.37881339G>C	GRCh37
NC_000017.9:g.35134865G>C	NCBI36
NG_007503.1:g.41947G>C , LRG_724:g.41947G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2531G>C MANE Select	ENSP00000269571.4:p.Arg844Thr
ENST00000269571.9:c.2531G>C	ENSP00000269571.4:p.Arg844Thr
ENST00000406381.6:c.2441G>C	ENSP00000385185.2:p.Arg814Thr
ENST00000445658.6:c.1703G>C	ENSP00000404047.2:p.Arg568Thr
ENST00000541774.5:c.2486G>C	ENSP00000446466.1:p.Arg829Thr
ENST00000578373.5:c.*2321G>C	ENSP00000463427.1:n.*2321G>C
ENST00000580074.1:c.637G>C
ENST00000583038.5:n.3665G>C
ENST00000584450.5:c.2531G>C	ENSP00000463714.1:p.Arg844Thr
ENST00000584601.5:c.2441G>C	ENSP00000462438.1:p.Arg814Thr
NM_001005862.2:c.2441G>C , LRG_724t1:c.2441G>C	NP_001005862.1:p.Arg814Thr
NM_001289936.1:c.2486G>C , LRG_724t4:c.2486G>C	NP_001276865.1:p.Arg829Thr
NM_001289937.1:c.2531G>C	NP_001276866.1:p.Arg844Thr
NM_004448.3:c.2531G>C , LRG_724t2:c.2531G>C	NP_004439.2:p.Arg844Thr
NR_110535.1:n.2855G>C
XM_024450641.1:c.2669G>C	XP_024306409.1:p.Arg890Thr
XM_024450642.1:c.2624G>C	XP_024306410.1:p.Arg875Thr
XM_024450643.1:c.2579G>C	XP_024306411.1:p.Arg860Thr
NM_001005862.3:c.2441G>C	NP_001005862.1:p.Arg814Thr
NM_001289936.2:c.2486G>C	NP_001276865.1:p.Arg829Thr
NM_001289937.2:c.2531G>C	NP_001276866.1:p.Arg844Thr
NM_001382782.1:c.2441G>C	NP_001369711.1:p.Arg814Thr
NM_001382783.1:c.2441G>C	NP_001369712.1:p.Arg814Thr
NM_001382784.1:c.2648G>C	NP_001369713.1:p.Arg883Thr
NM_001382785.1:c.2633G>C	NP_001369714.1:p.Arg878Thr
NM_001382786.1:c.2612G>C	NP_001369715.1:p.Arg871Thr
NM_001382787.1:c.2606G>C	NP_001369716.1:p.Arg869Thr
NM_001382788.1:c.2561G>C	NP_001369717.1:p.Arg854Thr
NM_001382789.1:c.2552G>C	NP_001369718.1:p.Arg851Thr
NM_001382790.1:c.2528G>C	NP_001369719.1:p.Arg843Thr
NM_001382791.1:c.2522G>C	NP_001369720.1:p.Arg841Thr
NM_001382792.1:c.2495G>C	NP_001369721.1:p.Arg832Thr
NM_001382793.1:c.2489G>C	NP_001369722.1:p.Arg830Thr
NM_001382794.1:c.2489G>C	NP_001369723.1:p.Arg830Thr
NM_001382795.1:c.2483G>C	NP_001369724.1:p.Arg828Thr
NM_001382796.1:c.2531G>C	NP_001369725.1:p.Arg844Thr
NM_001382797.1:c.2432G>C	NP_001369726.1:p.Arg811Thr
NM_001382798.1:c.2493+175G>C	NP_001369727.1:n.2493+175G>C
NM_001382799.1:c.2351G>C	NP_001369728.1:p.Arg784Thr
NM_001382800.1:c.2345G>C	NP_001369729.1:p.Arg782Thr
NM_001382801.1:c.2445+175G>C	NP_001369730.1:n.2445+175G>C
NM_001382802.1:c.2273G>C	NP_001369731.1:p.Arg758Thr
NM_001382803.1:c.2489G>C	NP_001369732.1:p.Arg830Thr
NM_001382804.1:c.1703G>C	NP_001369733.1:p.Arg568Thr
NM_001382805.1:c.2208+1426G>C	NP_001369734.1:n.2208+1426G>C
NM_001382806.1:c.1493G>C	NP_001369735.1:p.Arg498Thr
NM_004448.4:c.2531G>C MANE Select	NP_004439.2:p.Arg844Thr
NR_110535.2:n.2769G>C