LDH info

Canonical Allele Identifier: CA6940435
Gene: BRCA2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 233210
dbSNP Id: rs749594501

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32330922G>A , CM000675.2:g.32330922G>A GRCh38
NC_000013.10:g.32905059G>A , CM000675.1:g.32905059G>A GRCh37
NC_000013.9:g.31803059G>A NCBI36
NG_012772.3:g.20443G>A , LRG_293:g.20443G>A

Transcript Alleles

HGVS Amino-acid change
NM_000059.3:c.685G>A , LRG_293t1:c.685G>A NP_000050.2:p.Val229Met
XM_011535203.1:c.685G>A XP_011533505.1:p.Val229Met
XM_011535204.1:c.685G>A XP_011533506.1:p.Val229Met
XM_011535205.1:c.685G>A XP_011533507.1:p.Val229Met
ENST00000380152.7:c.685G>A ENSP00000369497.3:p.Val229Met
ENST00000530893.6:n.883G>A
ENST00000544455.5:c.685G>A ENSP00000439902.1:p.Val229Met
ENST00000614259.1:n.685G>A