LDH info

Canonical Allele Identifier: CA913188574
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32330929dup , CM000675.2:g.32330929dup GRCh38
NC_000013.10:g.32905066dup , CM000675.1:g.32905066dup GRCh37
NC_000013.9:g.31803066dup NCBI36
NG_012772.3:g.20450dup , LRG_293:g.20450dup

Transcript Alleles

HGVS Amino-acid change
NM_000059.3:c.692dup , LRG_293t1:c.692dup NP_000050.2:p.Ser231ArgfsTer7
XM_011535203.1:c.692dup XP_011533505.1:p.Ser231ArgfsTer7
XM_011535204.1:c.692dup XP_011533506.1:p.Ser231ArgfsTer7
XM_011535205.1:c.692dup XP_011533507.1:p.Ser231ArgfsTer7
ENST00000380152.7:c.692dup ENSP00000369497.3:p.Ser231ArgfsTer7
ENST00000530893.6:n.890dup
ENST00000544455.5:c.692dup ENSP00000439902.1:p.Ser231ArgfsTer7
ENST00000614259.1:n.692dup