LDH info

Canonical Allele Identifier: CA025843
Gene: BRCA2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 41569
dbSNP Id: rs4987047

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379392A>T , CM000675.2:g.32379392A>T GRCh38
NC_000013.10:g.32953529A>T , CM000675.1:g.32953529A>T GRCh37
NC_000013.9:g.31851529A>T NCBI36
NG_012772.3:g.68913A>T , LRG_293:g.68913A>T

Transcript Alleles

HGVS Amino-acid change
NM_000059.3:c.8830A>T , LRG_293t1:c.8830A>T NP_000050.2:p.Ile2944Phe
XM_011535203.1:c.8830A>T XP_011533505.1:p.Ile2944Phe
XM_011535204.1:c.8734A>T XP_011533506.1:p.Ile2912Phe
XM_011535205.1:c.8755-358A>T XP_011533507.1:p.=
ENST00000380152.7:c.8830A>T ENSP00000369497.3:p.Ile2944Phe
ENST00000528762.1:n.392A>T ENSP00000433168.1:p.=
ENST00000544455.5:c.8830A>T ENSP00000439902.1:p.Ile2944Phe