Canonical Allele Identifier: CA387756468

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137620134
• MyVariant Identifiers: chr13:g.32953585A>C (hg19) ; chr13:g.32379448A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379448A>C , CM000675.2:g.32379448A>C	GRCh38
NC_000013.10:g.32953585A>C , CM000675.1:g.32953585A>C	GRCh37
NC_000013.9:g.31851585A>C	NCBI36
NG_012772.3:g.68969A>C , LRG_293:g.68969A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8886A>C	ENSP00000434898.2:p.Leu2962Phe
ENST00000528762.2:c.*253A>C	ENSP00000433168.2:n.*253A>C
ENST00000530893.7:c.8517A>C	ENSP00000499438.2:p.Leu2839Phe
ENST00000665585.2:c.*448A>C	ENSP00000499570.2:n.*448A>C
ENST00000666593.2:c.8886A>C	ENSP00000499256.2:p.Leu2962Phe
ENST00000700202.2:c.8886A>C	ENSP00000514856.2:p.Leu2962Phe
ENST00000700202.1:c.1353A>C	ENSP00000514856.1:p.Leu451Phe
ENST00000700203.1:n.1013A>C
ENST00000380152.8:c.8886A>C MANE Select	ENSP00000369497.3:p.Leu2962Phe
ENST00000544455.6:c.8886A>C	ENSP00000439902.1:p.Leu2962Phe
ENST00000614259.2:c.8894A>C	ENSP00000506251.1:n.8894A>C
ENST00000665585.1:c.1764A>C
ENST00000680887.1:c.8886A>C	ENSP00000505508.1:p.Leu2962Phe
ENST00000380152.7:c.8886A>C	ENSP00000369497.3:p.Leu2962Phe
ENST00000528762.1:c.448A>C	ENSP00000433168.1:n.448A>C
ENST00000544455.5:c.8886A>C	ENSP00000439902.1:p.Leu2962Phe
NM_000059.3:c.8886A>C , LRG_293t1:c.8886A>C	NP_000050.2:p.Leu2962Phe
XM_011535203.1:c.8886A>C	XP_011533505.1:p.Leu2962Phe
XM_011535204.1:c.8790A>C	XP_011533506.1:p.Leu2930Phe
XM_011535205.1:c.8755-302A>C	XP_011533507.1:n.8755-302A>C
NM_000059.4:c.8886A>C MANE Select	NP_000050.3:p.Leu2962Phe