Canonical Allele Identifier: CA387755816

Gene: BRCA2

Linked Data

• dbSNP Id: rs80359134
• MyVariant Identifiers: chr13:g.32953472C>A (hg19) ; chr13:g.32379335C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379335C>A , CM000675.2:g.32379335C>A	GRCh38
NC_000013.10:g.32953472C>A , CM000675.1:g.32953472C>A	GRCh37
NC_000013.9:g.31851472C>A	NCBI36
NG_012772.3:g.68856C>A , LRG_293:g.68856C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8773C>A	ENSP00000434898.2:p.Gln2925Lys
ENST00000528762.2:c.*140C>A	ENSP00000433168.2:n.*140C>A
ENST00000530893.7:c.8404C>A	ENSP00000499438.2:p.Gln2802Lys
ENST00000665585.2:c.*335C>A	ENSP00000499570.2:n.*335C>A
ENST00000666593.2:c.8773C>A	ENSP00000499256.2:p.Gln2925Lys
ENST00000700202.2:c.8773C>A	ENSP00000514856.2:p.Gln2925Lys
ENST00000700202.1:c.1240C>A	ENSP00000514856.1:p.Gln414Lys
ENST00000700203.1:n.900C>A
ENST00000380152.8:c.8773C>A MANE Select	ENSP00000369497.3:p.Gln2925Lys
ENST00000544455.6:c.8773C>A	ENSP00000439902.1:p.Gln2925Lys
ENST00000614259.2:c.8781C>A	ENSP00000506251.1:n.8781C>A
ENST00000665585.1:c.1651C>A
ENST00000680887.1:c.8773C>A	ENSP00000505508.1:p.Gln2925Lys
ENST00000380152.7:c.8773C>A	ENSP00000369497.3:p.Gln2925Lys
ENST00000528762.1:c.335C>A	ENSP00000433168.1:n.335C>A
ENST00000544455.5:c.8773C>A	ENSP00000439902.1:p.Gln2925Lys
NM_000059.3:c.8773C>A , LRG_293t1:c.8773C>A	NP_000050.2:p.Gln2925Lys
XM_011535203.1:c.8773C>A	XP_011533505.1:p.Gln2925Lys
XM_011535204.1:c.8677C>A	XP_011533506.1:p.Gln2893Lys
XM_011535205.1:c.8755-415C>A	XP_011533507.1:n.8755-415C>A
NM_000059.4:c.8773C>A MANE Select	NP_000050.3:p.Gln2925Lys