Canonical Allele Identifier: CA339586

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 216264
• ClinVar RCV Id: RCV000200853 ; RCV000773161 ; RCV001705158
• dbSNP Id: rs863224600
• gnomAD v4: 13-32394939-G-T
• MyVariant Identifiers: chr13:g.32969076G>T (hg19) ; chr13:g.32394939G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394939G>T , CM000675.2:g.32394939G>T	GRCh38
NC_000013.10:g.32969076G>T , CM000675.1:g.32969076G>T	GRCh37
NC_000013.9:g.31867076G>T	NCBI36
NG_012772.3:g.84460G>T , LRG_293:g.84460G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9501+6G>T	ENSP00000434898.2:n.9501+6G>T
ENST00000528762.2:c.*868+6G>T	ENSP00000433168.2:n.*868+6G>T
ENST00000530893.7:c.9132+6G>T	ENSP00000499438.2:n.9132+6G>T
ENST00000665585.2:c.*1063+6G>T	ENSP00000499570.2:n.*1063+6G>T
ENST00000700202.2:c.9450+6G>T	ENSP00000514856.2:n.9450+6G>T
ENST00000700202.1:c.1917+6G>T	ENSP00000514856.1:n.1917+6G>T
ENST00000700203.1:n.1628+6G>T
ENST00000380152.8:c.9501+6G>T MANE Select	ENSP00000369497.3:n.9501+6G>T
ENST00000544455.6:c.9501+6G>T	ENSP00000439902.1:n.9501+6G>T
ENST00000614259.2:c.9509+6G>T	ENSP00000506251.1:n.9509+6G>T
ENST00000665585.1:c.2379+6G>T
ENST00000680887.1:c.9501+6G>T	ENSP00000505508.1:n.9501+6G>T
ENST00000380152.7:c.9501+6G>T	ENSP00000369497.3:n.9501+6G>T
ENST00000470094.1:c.458+6G>T
ENST00000544455.5:c.9501+6G>T	ENSP00000439902.1:n.9501+6G>T
NM_000059.3:c.9501+6G>T , LRG_293t1:c.9501+6G>T	NP_000050.2:n.9501+6G>T
XM_011535203.1:c.9501+6G>T	XP_011533505.1:n.9501+6G>T
XM_011535204.1:c.9405+6G>T	XP_011533506.1:n.9405+6G>T
NM_000059.4:c.9501+6G>T MANE Select	NP_000050.3:n.9501+6G>T