LDH info

Canonical Allele Identifier: CA023768
Gene: BRCA2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 52036
ClinVar RCV Id: RCV000113551
dbSNP Id: rs276174867

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32340575_32340577delinsAA , CM000675.2:g.32340575_32340577delinsAA GRCh38
NC_000013.10:g.32914712_32914714delinsAA , CM000675.1:g.32914712_32914714delinsAA GRCh37
NC_000013.9:g.31812712_31812714delinsAA NCBI36
NG_012772.3:g.30096_30098delinsAA , LRG_293:g.30096_30098delinsAA

Transcript Alleles

HGVS Amino-acid change
NM_000059.3:c.6220_6222delinsAA , LRG_293t1:c.6220_6222delinsAA NP_000050.2:p.His2074LysfsTer7
XM_011535203.1:c.6220_6222delinsAA XP_011533505.1:p.His2074LysfsTer7
XM_011535204.1:c.6220_6222delinsAA XP_011533506.1:p.His2074LysfsTer7
XM_011535205.1:c.6220_6222delinsAA XP_011533507.1:p.His2074LysfsTer7
ENST00000380152.7:c.6220_6222delinsAA ENSP00000369497.3:p.His2074LysfsTer7
ENST00000544455.5:c.6220_6222delinsAA ENSP00000439902.1:p.His2074LysfsTer7
ENST00000614259.1:n.6220_6222delinsAA