Canonical Allele Identifier: CA2590939290

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137578691
• gnomAD v3: 13-32362917-T-C
• gnomAD v4: 13-32362917-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32362917T>C , CM000675.2:g.32362917T>C	GRCh38
NC_000013.10:g.32937054T>C , CM000675.1:g.32937054T>C	GRCh37
NC_000013.9:g.31835054T>C	NCBI36
NG_012772.3:g.52438T>C , LRG_293:g.52438T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7976+224T>C	ENSP00000434898.2:n.7976+224T>C
ENST00000528762.2:c.7976+224T>C	ENSP00000433168.2:n.7976+224T>C
ENST00000530893.7:c.7607+224T>C	ENSP00000499438.2:n.7607+224T>C
ENST00000665585.2:c.7976+224T>C	ENSP00000499570.2:n.7976+224T>C
ENST00000666593.2:c.7976+224T>C	ENSP00000499256.2:n.7976+224T>C
ENST00000700202.2:c.7976+224T>C	ENSP00000514856.2:n.7976+224T>C
ENST00000700202.1:c.443+224T>C	ENSP00000514856.1:n.443+224T>C
ENST00000380152.8:c.7976+224T>C MANE Select	ENSP00000369497.3:n.7976+224T>C
ENST00000544455.6:c.7976+224T>C	ENSP00000439902.1:n.7976+224T>C
ENST00000614259.2:c.7984+224T>C	ENSP00000506251.1:n.7984+224T>C
ENST00000665585.1:c.541+224T>C
ENST00000680887.1:c.7976+224T>C	ENSP00000505508.1:n.7976+224T>C
ENST00000380152.7:c.7976+224T>C	ENSP00000369497.3:n.7976+224T>C
ENST00000544455.5:c.7976+224T>C	ENSP00000439902.1:n.7976+224T>C
NM_000059.3:c.7976+224T>C , LRG_293t1:c.7976+224T>C	NP_000050.2:n.7976+224T>C
XM_011535203.1:c.7976+224T>C	XP_011533505.1:n.7976+224T>C
XM_011535204.1:c.7880+224T>C	XP_011533506.1:n.7880+224T>C
XM_011535205.1:c.7976+224T>C	XP_011533507.1:n.7976+224T>C
NM_000059.4:c.7976+224T>C MANE Select	NP_000050.3:n.7976+224T>C