Canonical Allele Identifier: CA350174

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 221009
• ClinVar RCV Id: RCV000206111 ; RCV001000760
• dbSNP Id: rs864622720
• gnomAD v4: 13-32398337-G-A
• MyVariant Identifiers: chr13:g.32972474G>A (hg19) ; chr13:g.32398337G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398337G>A , CM000675.2:g.32398337G>A	GRCh38
NC_000013.10:g.32972474G>A , CM000675.1:g.32972474G>A	GRCh37
NC_000013.9:g.31870474G>A	NCBI36
NG_012772.3:g.87858G>A , LRG_293:g.87858G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*347G>A	ENSP00000434898.2:n.*347G>A
ENST00000528762.2:c.*1191G>A	ENSP00000433168.2:n.*1191G>A
ENST00000530893.7:c.9455G>A	ENSP00000499438.2:p.Ser3152Asn
ENST00000665585.2:c.*1386G>A	ENSP00000499570.2:n.*1386G>A
ENST00000700202.2:c.9773G>A	ENSP00000514856.2:p.Ser3258Asn
ENST00000700202.1:c.2240G>A	ENSP00000514856.1:p.Ser747Asn
ENST00000700203.1:n.1951G>A
ENST00000380152.8:c.9824G>A MANE Select	ENSP00000369497.3:p.Ser3275Asn
ENST00000544455.6:c.9824G>A	ENSP00000439902.1:p.Ser3275Asn
ENST00000614259.2:c.9832G>A	ENSP00000506251.1:n.9832G>A
ENST00000680887.1:c.9824G>A	ENSP00000505508.1:p.Ser3275Asn
ENST00000380152.7:c.9824G>A	ENSP00000369497.3:p.Ser3275Asn
ENST00000533776.1:n.412G>A
ENST00000544455.5:c.9824G>A	ENSP00000439902.1:p.Ser3275Asn
NM_000059.3:c.9824G>A , LRG_293t1:c.9824G>A	NP_000050.2:p.Ser3275Asn
XM_011535203.1:c.9824G>A	XP_011533505.1:p.Ser3275Asn
XM_011535204.1:c.9728G>A	XP_011533506.1:p.Ser3243Asn
NM_000059.4:c.9824G>A MANE Select	NP_000050.3:p.Ser3275Asn