Canonical Allele Identifier: CA018209

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51479
• ClinVar RCV Id: RCV000044210 ; RCV000083099 ; RCV000163591 ; RCV000759598 ; RCV000781095
• dbSNP Id: rs80358598
• ExAC: 13:32911995 T / A
• gnomAD v2: 13-32911995-T-A
• gnomAD v4: 13-32337858-T-A
• MyVariant Identifiers: chr13:g.32911995T>A (hg19) ; chr13:g.32337858T>A (hg38)
• PubMed: PMID:10923033

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32337858T>A , CM000675.2:g.32337858T>A	GRCh38
NC_000013.10:g.32911995T>A , CM000675.1:g.32911995T>A	GRCh37
NC_000013.9:g.31809995T>A	NCBI36
NG_012772.3:g.27379T>A , LRG_293:g.27379T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.3503T>A	ENSP00000434898.2:p.Met1168Lys
ENST00000528762.2:c.3503T>A	ENSP00000433168.2:p.Met1168Lys
ENST00000530893.7:c.3134T>A	ENSP00000499438.2:p.Met1045Lys
ENST00000665585.2:c.3503T>A	ENSP00000499570.2:p.Met1168Lys
ENST00000666593.2:c.3503T>A	ENSP00000499256.2:p.Met1168Lys
ENST00000700202.2:c.3503T>A	ENSP00000514856.2:p.Met1168Lys
ENST00000380152.8:c.3503T>A MANE Select	ENSP00000369497.3:p.Met1168Lys
ENST00000544455.6:c.3503T>A	ENSP00000439902.1:p.Met1168Lys
ENST00000614259.2:c.3503T>A	ENSP00000506251.1:p.Met1168Lys
ENST00000680887.1:c.3503T>A	ENSP00000505508.1:p.Met1168Lys
ENST00000380152.7:c.3503T>A	ENSP00000369497.3:p.Met1168Lys
ENST00000544455.5:c.3503T>A	ENSP00000439902.1:p.Met1168Lys
ENST00000614259.1:n.3503T>A
NM_000059.3:c.3503T>A , LRG_293t1:c.3503T>A	NP_000050.2:p.Met1168Lys
XM_011535203.1:c.3503T>A	XP_011533505.1:p.Met1168Lys
XM_011535204.1:c.3503T>A	XP_011533506.1:p.Met1168Lys
XM_011535205.1:c.3503T>A	XP_011533507.1:p.Met1168Lys
NM_000059.4:c.3503T>A MANE Select	NP_000050.3:p.Met1168Lys