Canonical Allele Identifier: CA387765050

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 483129
• ClinVar RCV Id: RCV000565099
• dbSNP Id: rs1555289898
• gnomAD v3: 13-32398161-G-C
• gnomAD v4: 13-32398161-G-C
• MyVariant Identifiers: chr13:g.32972298G>C (hg19) ; chr13:g.32398161G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398161G>C , CM000675.2:g.32398161G>C	GRCh38
NC_000013.10:g.32972298G>C , CM000675.1:g.32972298G>C	GRCh37
NC_000013.9:g.31870298G>C	NCBI36
NG_012772.3:g.87682G>C , LRG_293:g.87682G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*172-1G>C	ENSP00000434898.2:n.*172-1G>C
ENST00000528762.2:c.*1016-1G>C	ENSP00000433168.2:n.*1016-1G>C
ENST00000530893.7:c.9280-1G>C	ENSP00000499438.2:n.9280-1G>C
ENST00000665585.2:c.*1211-1G>C	ENSP00000499570.2:n.*1211-1G>C
ENST00000700202.2:c.9598-1G>C	ENSP00000514856.2:n.9598-1G>C
ENST00000700202.1:c.2065-1G>C	ENSP00000514856.1:n.2065-1G>C
ENST00000700203.1:n.1776-1G>C
ENST00000380152.8:c.9649-1G>C MANE Select	ENSP00000369497.3:n.9649-1G>C
ENST00000544455.6:c.9649-1G>C	ENSP00000439902.1:n.9649-1G>C
ENST00000614259.2:c.9657-1G>C	ENSP00000506251.1:n.9657-1G>C
ENST00000665585.1:c.2527-1G>C
ENST00000680887.1:c.9649-1G>C	ENSP00000505508.1:n.9649-1G>C
ENST00000380152.7:c.9649-1G>C	ENSP00000369497.3:n.9649-1G>C
ENST00000470094.1:c.732-1G>C
ENST00000533776.1:n.237-1G>C
ENST00000544455.5:c.9649-1G>C	ENSP00000439902.1:n.9649-1G>C
NM_000059.3:c.9649-1G>C , LRG_293t1:c.9649-1G>C	NP_000050.2:n.9649-1G>C
XM_011535203.1:c.9649-1G>C	XP_011533505.1:n.9649-1G>C
XM_011535204.1:c.9553-1G>C	XP_011533506.1:n.9553-1G>C
NM_000059.4:c.9649-1G>C MANE Select	NP_000050.3:n.9649-1G>C