LDH info

Canonical Allele Identifier: CA16042141
Gene: BRCA2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371956
ClinVar RCV Id: RCV000409051
dbSNP Id: rs1057517595

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32339842_32339843del , CM000675.2:g.32339842_32339843del GRCh38
NC_000013.10:g.32913979_32913980del , CM000675.1:g.32913979_32913980del GRCh37
NC_000013.9:g.31811979_31811980del NCBI36
NG_012772.3:g.29363_29364del , LRG_293:g.29363_29364del

Transcript Alleles

HGVS Amino-acid change
NM_000059.3:c.5487_5488del , LRG_293t1:c.5487_5488del NP_000050.2:p.Leu1829PhefsTer4
XM_011535203.1:c.5487_5488del XP_011533505.1:p.Leu1829PhefsTer4
XM_011535204.1:c.5487_5488del XP_011533506.1:p.Leu1829PhefsTer4
XM_011535205.1:c.5487_5488del XP_011533507.1:p.Leu1829PhefsTer4
ENST00000380152.7:c.5487_5488del ENSP00000369497.3:p.Leu1829PhefsTer4
ENST00000544455.5:c.5487_5488del ENSP00000439902.1:p.Leu1829PhefsTer4
ENST00000614259.1:n.5487_5488del