Canonical Allele Identifier: CA387757308

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2586266
• ClinVar RCV Id: RCV003341724
• MyVariant Identifiers: chr13:g.32953634A>C (hg19) ; chr13:g.32379497A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379497A>C , CM000675.2:g.32379497A>C	GRCh38
NC_000013.10:g.32953634A>C , CM000675.1:g.32953634A>C	GRCh37
NC_000013.9:g.31851634A>C	NCBI36
NG_012772.3:g.69018A>C , LRG_293:g.69018A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8935A>C	ENSP00000434898.2:p.Lys2979Gln
ENST00000528762.2:c.*302A>C	ENSP00000433168.2:n.*302A>C
ENST00000530893.7:c.8566A>C	ENSP00000499438.2:p.Lys2856Gln
ENST00000665585.2:c.*497A>C	ENSP00000499570.2:n.*497A>C
ENST00000666593.2:c.8935A>C	ENSP00000499256.2:p.Lys2979Gln
ENST00000700202.2:c.8935A>C	ENSP00000514856.2:p.Lys2979Gln
ENST00000700202.1:c.1402A>C	ENSP00000514856.1:p.Lys468Gln
ENST00000700203.1:n.1062A>C
ENST00000380152.8:c.8935A>C MANE Select	ENSP00000369497.3:p.Lys2979Gln
ENST00000544455.6:c.8935A>C	ENSP00000439902.1:p.Lys2979Gln
ENST00000614259.2:c.8943A>C	ENSP00000506251.1:n.8943A>C
ENST00000665585.1:c.1813A>C
ENST00000680887.1:c.8935A>C	ENSP00000505508.1:p.Lys2979Gln
ENST00000380152.7:c.8935A>C	ENSP00000369497.3:p.Lys2979Gln
ENST00000544455.5:c.8935A>C	ENSP00000439902.1:p.Lys2979Gln
NM_000059.3:c.8935A>C , LRG_293t1:c.8935A>C	NP_000050.2:p.Lys2979Gln
XM_011535203.1:c.8935A>C	XP_011533505.1:p.Lys2979Gln
XM_011535204.1:c.8839A>C	XP_011533506.1:p.Lys2947Gln
XM_011535205.1:c.8755-253A>C	XP_011533507.1:n.8755-253A>C
NM_000059.4:c.8935A>C MANE Select	NP_000050.3:p.Lys2979Gln