LDH info

Canonical Allele Identifier: CA024482
Gene: BRCA2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 91458
ClinVar RCV Id: RCV000076975
dbSNP Id: rs398122566

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32330920A>G , CM000675.2:g.32330920A>G GRCh38
NC_000013.10:g.32905057A>G , CM000675.1:g.32905057A>G GRCh37
NC_000013.9:g.31803057A>G NCBI36
NG_012772.3:g.20441A>G , LRG_293:g.20441A>G

Transcript Alleles

HGVS Amino-acid change
NM_000059.3:c.683A>G , LRG_293t1:c.683A>G NP_000050.2:p.Asn228Ser
XM_011535203.1:c.683A>G XP_011533505.1:p.Asn228Ser
XM_011535204.1:c.683A>G XP_011533506.1:p.Asn228Ser
XM_011535205.1:c.683A>G XP_011533507.1:p.Asn228Ser
ENST00000380152.7:c.683A>G ENSP00000369497.3:p.Asn228Ser
ENST00000530893.6:n.881A>G
ENST00000544455.5:c.683A>G ENSP00000439902.1:p.Asn228Ser
ENST00000614259.1:n.683A>G