Canonical Allele Identifier: CA387752822

Gene: BRCA2

Linked Data

• dbSNP Id: rs1566249325
• MyVariant Identifiers: chr13:g.32945179A>C (hg19) ; chr13:g.32371042A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32371042A>C , CM000675.2:g.32371042A>C	GRCh38
NC_000013.10:g.32945179A>C , CM000675.1:g.32945179A>C	GRCh37
NC_000013.9:g.31843179A>C	NCBI36
NG_012772.3:g.60563A>C , LRG_293:g.60563A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.8574A>C	ENSP00000434898.2:p.Gln2858His
ENST00000528762.2:c.8574A>C	ENSP00000433168.2:p.Gln2858His
ENST00000530893.7:c.8205A>C	ENSP00000499438.2:p.Gln2735His
ENST00000665585.2:c.8574A>C	ENSP00000499570.2:p.Gln2858His
ENST00000666593.2:c.8574A>C	ENSP00000499256.2:p.Gln2858His
ENST00000700202.2:c.8574A>C	ENSP00000514856.2:p.Gln2858His
ENST00000700202.1:c.1041A>C	ENSP00000514856.1:p.Gln347His
ENST00000380152.8:c.8574A>C MANE Select	ENSP00000369497.3:p.Gln2858His
ENST00000544455.6:c.8574A>C	ENSP00000439902.1:p.Gln2858His
ENST00000614259.2:c.8582A>C	ENSP00000506251.1:n.8582A>C
ENST00000665585.1:c.1139A>C
ENST00000680887.1:c.8574A>C	ENSP00000505508.1:p.Gln2858His
ENST00000380152.7:c.8574A>C	ENSP00000369497.3:p.Gln2858His
ENST00000528762.1:c.72A>C	ENSP00000433168.1:p.Gln24His
ENST00000544455.5:c.8574A>C	ENSP00000439902.1:p.Gln2858His
NM_000059.3:c.8574A>C , LRG_293t1:c.8574A>C	NP_000050.2:p.Gln2858His
XM_011535203.1:c.8574A>C	XP_011533505.1:p.Gln2858His
XM_011535204.1:c.8478A>C	XP_011533506.1:p.Gln2826His
XM_011535205.1:c.8574A>C	XP_011533507.1:p.Gln2858His
NM_000059.4:c.8574A>C MANE Select	NP_000050.3:p.Gln2858His