Canonical Allele Identifier: CA6941326

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 427454
• ClinVar RCV Id: RCV000495691 ; RCV000780047 ; RCV000773157 ; RCV000982396 ; RCV001283944
• dbSNP Id: rs781452016
• ExAC: 13:32953912 A / C
• gnomAD v2: 13-32953912-A-C
• gnomAD v4: 13-32379775-A-C
• MyVariant Identifiers: chr13:g.32953912A>C (hg19) ; chr13:g.32379775A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379775A>C , CM000675.2:g.32379775A>C	GRCh38
NC_000013.10:g.32953912A>C , CM000675.1:g.32953912A>C	GRCh37
NC_000013.9:g.31851912A>C	NCBI36
NG_012772.3:g.69296A>C , LRG_293:g.69296A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8979A>C	ENSP00000434898.2:p.Ser2993=
ENST00000528762.2:c.*346A>C	ENSP00000433168.2:n.*346A>C
ENST00000530893.7:c.8610A>C	ENSP00000499438.2:p.Ser2870=
ENST00000665585.2:c.*541A>C	ENSP00000499570.2:n.*541A>C
ENST00000666593.2:c.8979A>C	ENSP00000499256.2:p.Ser2993=
ENST00000700202.2:c.8954-26A>C	ENSP00000514856.2:n.8954-26A>C
ENST00000700202.1:c.1421-26A>C	ENSP00000514856.1:n.1421-26A>C
ENST00000700203.1:n.1106A>C
ENST00000380152.8:c.8979A>C MANE Select	ENSP00000369497.3:p.Ser2993=
ENST00000544455.6:c.8979A>C	ENSP00000439902.1:p.Ser2993=
ENST00000614259.2:c.8987A>C	ENSP00000506251.1:n.8987A>C
ENST00000665585.1:c.1857A>C
ENST00000680887.1:c.8979A>C	ENSP00000505508.1:p.Ser2993=
ENST00000380152.7:c.8979A>C	ENSP00000369497.3:p.Ser2993=
ENST00000544455.5:c.8979A>C	ENSP00000439902.1:p.Ser2993=
NM_000059.3:c.8979A>C , LRG_293t1:c.8979A>C	NP_000050.2:p.Ser2993=
XM_011535203.1:c.8979A>C	XP_011533505.1:p.Ser2993=
XM_011535204.1:c.8883A>C	XP_011533506.1:p.Ser2961=
XM_011535205.1:c.*17A>C	XP_011533507.1:n.*17A>C
NM_000059.4:c.8979A>C MANE Select	NP_000050.3:p.Ser2993=