Canonical Allele Identifier: CA023133
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41556
dbSNP Id: rs4987117

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32340099C>T , CM000675.2:g.32340099C>T GRCh38
NC_000013.10:g.32914236C>T , CM000675.1:g.32914236C>T GRCh37
NC_000013.9:g.31812236C>T NCBI36
NG_012772.3:g.29620C>T , LRG_293:g.29620C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000380152.8:c.5744C>T MANE Select ENSP00000369497.3:p.Thr1915Met
ENST00000544455.6:c.5744C>T ENSP00000439902.1:p.Thr1915Met
ENST00000614259.2:n.5744C>T ENSP00000506251.1:p.Thr1915Met
ENST00000680887.1:c.5744C>T ENSP00000505508.1:p.Thr1915Met
ENST00000380152.7:c.5744C>T ENSP00000369497.3:p.Thr1915Met
ENST00000544455.5:c.5744C>T ENSP00000439902.1:p.Thr1915Met
ENST00000614259.1:n.5744C>T
NM_000059.3:c.5744C>T , LRG_293t1:c.5744C>T NP_000050.2:p.Thr1915Met
XM_011535203.1:c.5744C>T XP_011533505.1:p.Thr1915Met
XM_011535204.1:c.5744C>T XP_011533506.1:p.Thr1915Met
XM_011535205.1:c.5744C>T XP_011533507.1:p.Thr1915Met
NM_000059.4:c.5744C>T MANE Select NP_000050.3:p.Thr1915Met