Canonical Allele Identifier: CA399304401

Gene: ERBB2

Linked Data

• dbSNP Id: rs2145863823
• MyVariant Identifiers: chr17:g.37881347G>C (hg19) ; chr17:g.39725094G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39725094G>C , CM000679.2:g.39725094G>C	GRCh38
NC_000017.10:g.37881347G>C , CM000679.1:g.37881347G>C	GRCh37
NC_000017.9:g.35134873G>C	NCBI36
NG_007503.1:g.41955G>C , LRG_724:g.41955G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2539G>C MANE Select	ENSP00000269571.4:p.Ala847Pro
ENST00000269571.9:c.2539G>C	ENSP00000269571.4:p.Ala847Pro
ENST00000406381.6:c.2449G>C	ENSP00000385185.2:p.Ala817Pro
ENST00000445658.6:c.1711G>C	ENSP00000404047.2:p.Ala571Pro
ENST00000541774.5:c.2494G>C	ENSP00000446466.1:p.Ala832Pro
ENST00000578373.5:c.*2329G>C	ENSP00000463427.1:n.*2329G>C
ENST00000580074.1:c.645G>C
ENST00000583038.5:n.3673G>C
ENST00000584450.5:c.2539G>C	ENSP00000463714.1:p.Ala847Pro
ENST00000584601.5:c.2449G>C	ENSP00000462438.1:p.Ala817Pro
NM_001005862.2:c.2449G>C , LRG_724t1:c.2449G>C	NP_001005862.1:p.Ala817Pro
NM_001289936.1:c.2494G>C , LRG_724t4:c.2494G>C	NP_001276865.1:p.Ala832Pro
NM_001289937.1:c.2539G>C	NP_001276866.1:p.Ala847Pro
NM_004448.3:c.2539G>C , LRG_724t2:c.2539G>C	NP_004439.2:p.Ala847Pro
NR_110535.1:n.2863G>C
XM_024450641.1:c.2677G>C	XP_024306409.1:p.Ala893Pro
XM_024450642.1:c.2632G>C	XP_024306410.1:p.Ala878Pro
XM_024450643.1:c.2587G>C	XP_024306411.1:p.Ala863Pro
NM_001005862.3:c.2449G>C	NP_001005862.1:p.Ala817Pro
NM_001289936.2:c.2494G>C	NP_001276865.1:p.Ala832Pro
NM_001289937.2:c.2539G>C	NP_001276866.1:p.Ala847Pro
NM_001382782.1:c.2449G>C	NP_001369711.1:p.Ala817Pro
NM_001382783.1:c.2449G>C	NP_001369712.1:p.Ala817Pro
NM_001382784.1:c.2656G>C	NP_001369713.1:p.Ala886Pro
NM_001382785.1:c.2641G>C	NP_001369714.1:p.Ala881Pro
NM_001382786.1:c.2620G>C	NP_001369715.1:p.Ala874Pro
NM_001382787.1:c.2614G>C	NP_001369716.1:p.Ala872Pro
NM_001382788.1:c.2569G>C	NP_001369717.1:p.Ala857Pro
NM_001382789.1:c.2560G>C	NP_001369718.1:p.Ala854Pro
NM_001382790.1:c.2536G>C	NP_001369719.1:p.Ala846Pro
NM_001382791.1:c.2530G>C	NP_001369720.1:p.Ala844Pro
NM_001382792.1:c.2503G>C	NP_001369721.1:p.Ala835Pro
NM_001382793.1:c.2497G>C	NP_001369722.1:p.Ala833Pro
NM_001382794.1:c.2497G>C	NP_001369723.1:p.Ala833Pro
NM_001382795.1:c.2491G>C	NP_001369724.1:p.Ala831Pro
NM_001382796.1:c.2539G>C	NP_001369725.1:p.Ala847Pro
NM_001382797.1:c.2440G>C	NP_001369726.1:p.Ala814Pro
NM_001382798.1:c.2493+183G>C	NP_001369727.1:n.2493+183G>C
NM_001382799.1:c.2359G>C	NP_001369728.1:p.Ala787Pro
NM_001382800.1:c.2353G>C	NP_001369729.1:p.Ala785Pro
NM_001382801.1:c.2445+183G>C	NP_001369730.1:n.2445+183G>C
NM_001382802.1:c.2281G>C	NP_001369731.1:p.Ala761Pro
NM_001382803.1:c.2497G>C	NP_001369732.1:p.Ala833Pro
NM_001382804.1:c.1711G>C	NP_001369733.1:p.Ala571Pro
NM_001382805.1:c.2208+1434G>C	NP_001369734.1:n.2208+1434G>C
NM_001382806.1:c.1501G>C	NP_001369735.1:p.Ala501Pro
NM_004448.4:c.2539G>C MANE Select	NP_004439.2:p.Ala847Pro
NR_110535.2:n.2777G>C