Canonical Allele Identifier: CA483440171

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32972490T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398353T>A , CM000675.2:g.32398353T>A	GRCh38
NC_000013.10:g.32972490T>A , CM000675.1:g.32972490T>A	GRCh37
NC_000013.9:g.31870490T>A	NCBI36
NG_012772.3:g.87874T>A , LRG_293:g.87874T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*363T>A	ENSP00000434898.2:n.*363T>A
ENST00000528762.2:c.*1207T>A	ENSP00000433168.2:n.*1207T>A
ENST00000530893.7:c.9471T>A	ENSP00000499438.2:p.Pro3157=
ENST00000665585.2:c.*1402T>A	ENSP00000499570.2:n.*1402T>A
ENST00000700202.2:c.9789T>A	ENSP00000514856.2:p.Pro3263=
ENST00000700202.1:c.2256T>A	ENSP00000514856.1:p.Pro752=
ENST00000700203.1:n.1967T>A
ENST00000380152.8:c.9840T>A MANE Select	ENSP00000369497.3:p.Pro3280=
ENST00000544455.6:c.9840T>A	ENSP00000439902.1:p.Pro3280=
ENST00000614259.2:c.9848T>A	ENSP00000506251.1:n.9848T>A
ENST00000680887.1:c.9840T>A	ENSP00000505508.1:p.Pro3280=
ENST00000380152.7:c.9840T>A	ENSP00000369497.3:p.Pro3280=
ENST00000533776.1:n.428T>A
ENST00000544455.5:c.9840T>A	ENSP00000439902.1:p.Pro3280=
NM_000059.3:c.9840T>A , LRG_293t1:c.9840T>A	NP_000050.2:p.Pro3280=
XM_011535203.1:c.9840T>A	XP_011533505.1:p.Pro3280=
XM_011535204.1:c.9744T>A	XP_011533506.1:p.Pro3248=
NM_000059.4:c.9840T>A MANE Select	NP_000050.3:p.Pro3280=