Canonical Allele Identifier: CA387758558

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137625675
• MyVariant Identifiers: chr13:g.32954259T>C (hg19) ; chr13:g.32380122T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380122T>C , CM000675.2:g.32380122T>C	GRCh38
NC_000013.10:g.32954259T>C , CM000675.1:g.32954259T>C	GRCh37
NC_000013.9:g.31852259T>C	NCBI36
NG_012772.3:g.69643T>C , LRG_293:g.69643T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9233T>C	ENSP00000434898.2:p.Val3078Ala
ENST00000528762.2:c.*600T>C	ENSP00000433168.2:n.*600T>C
ENST00000530893.7:c.8864T>C	ENSP00000499438.2:p.Val2955Ala
ENST00000665585.2:c.*795T>C	ENSP00000499570.2:n.*795T>C
ENST00000666593.2:c.9233T>C	ENSP00000499256.2:p.Val3078Ala
ENST00000700202.2:c.9182T>C	ENSP00000514856.2:p.Val3061Ala
ENST00000700202.1:c.1649T>C	ENSP00000514856.1:p.Val550Ala
ENST00000700203.1:n.1360T>C
ENST00000380152.8:c.9233T>C MANE Select	ENSP00000369497.3:p.Val3078Ala
ENST00000544455.6:c.9233T>C	ENSP00000439902.1:p.Val3078Ala
ENST00000614259.2:c.9241T>C	ENSP00000506251.1:n.9241T>C
ENST00000665585.1:c.2111T>C
ENST00000666593.1:c.116T>C	ENSP00000499256.1:p.Val39Ala
ENST00000680887.1:c.9233T>C	ENSP00000505508.1:p.Val3078Ala
ENST00000380152.7:c.9233T>C	ENSP00000369497.3:p.Val3078Ala
ENST00000470094.1:c.190T>C
ENST00000544455.5:c.9233T>C	ENSP00000439902.1:p.Val3078Ala
NM_000059.3:c.9233T>C , LRG_293t1:c.9233T>C	NP_000050.2:p.Val3078Ala
XM_011535203.1:c.9233T>C	XP_011533505.1:p.Val3078Ala
XM_011535204.1:c.9137T>C	XP_011533506.1:p.Val3046Ala
NM_000059.4:c.9233T>C MANE Select	NP_000050.3:p.Val3078Ala