Canonical Allele Identifier: CA387767772

Gene: BRCA2

Linked Data

• dbSNP Id: rs876660701
• MyVariant Identifiers: chr13:g.32972681T>A (hg19) ; chr13:g.32398544T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398544T>A , CM000675.2:g.32398544T>A	GRCh38
NC_000013.10:g.32972681T>A , CM000675.1:g.32972681T>A	GRCh37
NC_000013.9:g.31870681T>A	NCBI36
NG_012772.3:g.88065T>A , LRG_293:g.88065T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*554T>A	ENSP00000434898.2:n.*554T>A
ENST00000528762.2:c.*1398T>A	ENSP00000433168.2:n.*1398T>A
ENST00000530893.7:c.9662T>A	ENSP00000499438.2:p.Leu3221His
ENST00000665585.2:c.*1593T>A	ENSP00000499570.2:n.*1593T>A
ENST00000700202.2:c.9980T>A	ENSP00000514856.2:p.Leu3327His
ENST00000700202.1:c.2447T>A	ENSP00000514856.1:p.Leu816His
ENST00000700203.1:n.2158T>A
ENST00000380152.8:c.10031T>A MANE Select	ENSP00000369497.3:p.Leu3344His
ENST00000544455.6:c.10031T>A	ENSP00000439902.1:p.Leu3344His
ENST00000614259.2:c.10039T>A	ENSP00000506251.1:n.10039T>A
ENST00000680887.1:c.10031T>A	ENSP00000505508.1:p.Leu3344His
ENST00000380152.7:c.10031T>A	ENSP00000369497.3:p.Leu3344His
ENST00000544455.5:c.10031T>A	ENSP00000439902.1:p.Leu3344His
NM_000059.3:c.10031T>A , LRG_293t1:c.10031T>A	NP_000050.2:p.Leu3344His
XM_011535203.1:c.10031T>A	XP_011533505.1:p.Leu3344His
XM_011535204.1:c.9935T>A	XP_011533506.1:p.Leu3312His
NM_000059.4:c.10031T>A MANE Select	NP_000050.3:p.Leu3344His