Canonical Allele Identifier: CA483261956

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1135893
• ClinVar RCV Id: RCV001471350
• dbSNP Id: rs2137619714
• MyVariant Identifiers: chr13:g.32953537G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379400G>A , CM000675.2:g.32379400G>A	GRCh38
NC_000013.10:g.32953537G>A , CM000675.1:g.32953537G>A	GRCh37
NC_000013.9:g.31851537G>A	NCBI36
NG_012772.3:g.68921G>A , LRG_293:g.68921G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.8838G>A	ENSP00000434898.2:p.Leu2946=
ENST00000528762.2:c.*205G>A	ENSP00000433168.2:n.*205G>A
ENST00000530893.7:c.8469G>A	ENSP00000499438.2:p.Leu2823=
ENST00000665585.2:c.*400G>A	ENSP00000499570.2:n.*400G>A
ENST00000666593.2:c.8838G>A	ENSP00000499256.2:p.Leu2946=
ENST00000700202.2:c.8838G>A	ENSP00000514856.2:p.Leu2946=
ENST00000700202.1:c.1305G>A	ENSP00000514856.1:p.Leu435=
ENST00000700203.1:n.965G>A
ENST00000380152.8:c.8838G>A MANE Select	ENSP00000369497.3:p.Leu2946=
ENST00000544455.6:c.8838G>A	ENSP00000439902.1:p.Leu2946=
ENST00000614259.2:c.8846G>A	ENSP00000506251.1:n.8846G>A
ENST00000665585.1:c.1716G>A
ENST00000680887.1:c.8838G>A	ENSP00000505508.1:p.Leu2946=
ENST00000380152.7:c.8838G>A	ENSP00000369497.3:p.Leu2946=
ENST00000528762.1:c.400G>A	ENSP00000433168.1:n.400G>A
ENST00000544455.5:c.8838G>A	ENSP00000439902.1:p.Leu2946=
NM_000059.3:c.8838G>A , LRG_293t1:c.8838G>A	NP_000050.2:p.Leu2946=
XM_011535203.1:c.8838G>A	XP_011533505.1:p.Leu2946=
XM_011535204.1:c.8742G>A	XP_011533506.1:p.Leu2914=
XM_011535205.1:c.8755-350G>A	XP_011533507.1:n.8755-350G>A
NM_000059.4:c.8838G>A MANE Select	NP_000050.3:p.Leu2946=