Canonical Allele Identifier: CA10586593

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 254628
• ClinVar RCV Id: RCV000241033
• dbSNP Id: rs886038187
• MyVariant Identifiers: chr13:g.32953610A>T (hg19) ; chr13:g.32379473A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379473A>T , CM000675.2:g.32379473A>T	GRCh38
NC_000013.10:g.32953610A>T , CM000675.1:g.32953610A>T	GRCh37
NC_000013.9:g.31851610A>T	NCBI36
NG_012772.3:g.68994A>T , LRG_293:g.68994A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8911A>T	ENSP00000434898.2:p.Lys2971Ter
ENST00000528762.2:c.*278A>T	ENSP00000433168.2:n.*278A>T
ENST00000530893.7:c.8542A>T	ENSP00000499438.2:p.Lys2848Ter
ENST00000665585.2:c.*473A>T	ENSP00000499570.2:n.*473A>T
ENST00000666593.2:c.8911A>T	ENSP00000499256.2:p.Lys2971Ter
ENST00000700202.2:c.8911A>T	ENSP00000514856.2:p.Lys2971Ter
ENST00000700202.1:c.1378A>T	ENSP00000514856.1:p.Lys460Ter
ENST00000700203.1:n.1038A>T
ENST00000380152.8:c.8911A>T MANE Select	ENSP00000369497.3:p.Lys2971Ter
ENST00000544455.6:c.8911A>T	ENSP00000439902.1:p.Lys2971Ter
ENST00000614259.2:c.8919A>T	ENSP00000506251.1:n.8919A>T
ENST00000665585.1:c.1789A>T
ENST00000680887.1:c.8911A>T	ENSP00000505508.1:p.Lys2971Ter
ENST00000380152.7:c.8911A>T	ENSP00000369497.3:p.Lys2971Ter
ENST00000528762.1:c.473A>T	ENSP00000433168.1:n.473A>T
ENST00000544455.5:c.8911A>T	ENSP00000439902.1:p.Lys2971Ter
NM_000059.3:c.8911A>T , LRG_293t1:c.8911A>T	NP_000050.2:p.Lys2971Ter
XM_011535203.1:c.8911A>T	XP_011533505.1:p.Lys2971Ter
XM_011535204.1:c.8815A>T	XP_011533506.1:p.Lys2939Ter
XM_011535205.1:c.8755-277A>T	XP_011533507.1:n.8755-277A>T
NM_000059.4:c.8911A>T MANE Select	NP_000050.3:p.Lys2971Ter