Canonical Allele Identifier: CA387763145

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137659005
• gnomAD v4: 13-32396939-G-A
• MyVariant Identifiers: chr13:g.32971076G>A (hg19) ; chr13:g.32396939G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32396939G>A , CM000675.2:g.32396939G>A	GRCh38
NC_000013.10:g.32971076G>A , CM000675.1:g.32971076G>A	GRCh37
NC_000013.9:g.31869076G>A	NCBI36
NG_012772.3:g.86460G>A , LRG_293:g.86460G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*66G>A	ENSP00000434898.2:n.*66G>A
ENST00000528762.2:c.*910G>A	ENSP00000433168.2:n.*910G>A
ENST00000530893.7:c.9174G>A	ENSP00000499438.2:p.Met3058Ile
ENST00000665585.2:c.*1105G>A	ENSP00000499570.2:n.*1105G>A
ENST00000700202.2:c.9492G>A	ENSP00000514856.2:p.Met3164Ile
ENST00000700202.1:c.1959G>A	ENSP00000514856.1:p.Met653Ile
ENST00000700203.1:n.1670G>A
ENST00000380152.8:c.9543G>A MANE Select	ENSP00000369497.3:p.Met3181Ile
ENST00000544455.6:c.9543G>A	ENSP00000439902.1:p.Met3181Ile
ENST00000614259.2:c.9551G>A	ENSP00000506251.1:n.9551G>A
ENST00000665585.1:c.2421G>A
ENST00000680887.1:c.9543G>A	ENSP00000505508.1:p.Met3181Ile
ENST00000380152.7:c.9543G>A	ENSP00000369497.3:p.Met3181Ile
ENST00000470094.1:c.626G>A
ENST00000533776.1:n.131G>A
ENST00000544455.5:c.9543G>A	ENSP00000439902.1:p.Met3181Ile
NM_000059.3:c.9543G>A , LRG_293t1:c.9543G>A	NP_000050.2:p.Met3181Ile
XM_011535203.1:c.9543G>A	XP_011533505.1:p.Met3181Ile
XM_011535204.1:c.9447G>A	XP_011533506.1:p.Met3149Ile
NM_000059.4:c.9543G>A MANE Select	NP_000050.3:p.Met3181Ile