Canonical Allele Identifier: CA387757282

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32953619A>C (hg19) ; chr13:g.32379482A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379482A>C , CM000675.2:g.32379482A>C	GRCh38
NC_000013.10:g.32953619A>C , CM000675.1:g.32953619A>C	GRCh37
NC_000013.9:g.31851619A>C	NCBI36
NG_012772.3:g.69003A>C , LRG_293:g.69003A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8920A>C	ENSP00000434898.2:p.Ile2974Leu
ENST00000528762.2:c.*287A>C	ENSP00000433168.2:n.*287A>C
ENST00000530893.7:c.8551A>C	ENSP00000499438.2:p.Ile2851Leu
ENST00000665585.2:c.*482A>C	ENSP00000499570.2:n.*482A>C
ENST00000666593.2:c.8920A>C	ENSP00000499256.2:p.Ile2974Leu
ENST00000700202.2:c.8920A>C	ENSP00000514856.2:p.Ile2974Leu
ENST00000700202.1:c.1387A>C	ENSP00000514856.1:p.Ile463Leu
ENST00000700203.1:n.1047A>C
ENST00000380152.8:c.8920A>C MANE Select	ENSP00000369497.3:p.Ile2974Leu
ENST00000544455.6:c.8920A>C	ENSP00000439902.1:p.Ile2974Leu
ENST00000614259.2:c.8928A>C	ENSP00000506251.1:n.8928A>C
ENST00000665585.1:c.1798A>C
ENST00000680887.1:c.8920A>C	ENSP00000505508.1:p.Ile2974Leu
ENST00000380152.7:c.8920A>C	ENSP00000369497.3:p.Ile2974Leu
ENST00000528762.1:c.482A>C	ENSP00000433168.1:n.482A>C
ENST00000544455.5:c.8920A>C	ENSP00000439902.1:p.Ile2974Leu
NM_000059.3:c.8920A>C , LRG_293t1:c.8920A>C	NP_000050.2:p.Ile2974Leu
XM_011535203.1:c.8920A>C	XP_011533505.1:p.Ile2974Leu
XM_011535204.1:c.8824A>C	XP_011533506.1:p.Ile2942Leu
XM_011535205.1:c.8755-268A>C	XP_011533507.1:n.8755-268A>C
NM_000059.4:c.8920A>C MANE Select	NP_000050.3:p.Ile2974Leu