Canonical Allele Identifier: CA16607503

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 385944
• ClinVar RCV Id: RCV000419642
• dbSNP Id: rs1057522379
• MyVariant Identifiers: chr13:g.32972643T>A (hg19) ; chr13:g.32398506T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398506T>A , CM000675.2:g.32398506T>A	GRCh38
NC_000013.10:g.32972643T>A , CM000675.1:g.32972643T>A	GRCh37
NC_000013.9:g.31870643T>A	NCBI36
NG_012772.3:g.88027T>A , LRG_293:g.88027T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*516T>A	ENSP00000434898.2:n.*516T>A
ENST00000528762.2:c.*1360T>A	ENSP00000433168.2:n.*1360T>A
ENST00000530893.7:c.9624T>A	ENSP00000499438.2:p.Ile3208=
ENST00000665585.2:c.*1555T>A	ENSP00000499570.2:n.*1555T>A
ENST00000700202.2:c.9942T>A	ENSP00000514856.2:p.Ile3314=
ENST00000700202.1:c.2409T>A	ENSP00000514856.1:p.Ile803=
ENST00000700203.1:n.2120T>A
ENST00000380152.8:c.9993T>A MANE Select	ENSP00000369497.3:p.Ile3331=
ENST00000544455.6:c.9993T>A	ENSP00000439902.1:p.Ile3331=
ENST00000614259.2:c.10001T>A	ENSP00000506251.1:n.10001T>A
ENST00000680887.1:c.9993T>A	ENSP00000505508.1:p.Ile3331=
ENST00000380152.7:c.9993T>A	ENSP00000369497.3:p.Ile3331=
ENST00000544455.5:c.9993T>A	ENSP00000439902.1:p.Ile3331=
NM_000059.3:c.9993T>A , LRG_293t1:c.9993T>A	NP_000050.2:p.Ile3331=
XM_011535203.1:c.9993T>A	XP_011533505.1:p.Ile3331=
XM_011535204.1:c.9897T>A	XP_011533506.1:p.Ile3299=
NM_000059.4:c.9993T>A MANE Select	NP_000050.3:p.Ile3331=