LDH info

Canonical Allele Identifier: CA387759838
Gene: BRCA2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 495490
ClinVar RCV Id: RCV000586098

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
NM_000059.3:c.683A>T , LRG_293t1:c.683A>T NP_000050.2:p.Asn228Ile
XM_011535203.1:c.683A>T XP_011533505.1:p.Asn228Ile
XM_011535204.1:c.683A>T XP_011533506.1:p.Asn228Ile
XM_011535205.1:c.683A>T XP_011533507.1:p.Asn228Ile
ENST00000380152.7:c.683A>T ENSP00000369497.3:p.Asn228Ile
ENST00000530893.6:n.881A>T
ENST00000544455.5:c.683A>T ENSP00000439902.1:p.Asn228Ile
ENST00000614259.1:n.683A>T