Canonical Allele Identifier: CA16614232

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 415695
• ClinVar RCV Id: RCV001491345
• dbSNP Id: rs1060504636
• MyVariant Identifiers: chr13:g.32953615G>A (hg19) ; chr13:g.32379478G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379478G>A , CM000675.2:g.32379478G>A	GRCh38
NC_000013.10:g.32953615G>A , CM000675.1:g.32953615G>A	GRCh37
NC_000013.9:g.31851615G>A	NCBI36
NG_012772.3:g.68999G>A , LRG_293:g.68999G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8916G>A	ENSP00000434898.2:p.Leu2972=
ENST00000528762.2:c.*283G>A	ENSP00000433168.2:n.*283G>A
ENST00000530893.7:c.8547G>A	ENSP00000499438.2:p.Leu2849=
ENST00000665585.2:c.*478G>A	ENSP00000499570.2:n.*478G>A
ENST00000666593.2:c.8916G>A	ENSP00000499256.2:p.Leu2972=
ENST00000700202.2:c.8916G>A	ENSP00000514856.2:p.Leu2972=
ENST00000700202.1:c.1383G>A	ENSP00000514856.1:p.Leu461=
ENST00000700203.1:n.1043G>A
ENST00000380152.8:c.8916G>A MANE Select	ENSP00000369497.3:p.Leu2972=
ENST00000544455.6:c.8916G>A	ENSP00000439902.1:p.Leu2972=
ENST00000614259.2:c.8924G>A	ENSP00000506251.1:n.8924G>A
ENST00000665585.1:c.1794G>A
ENST00000680887.1:c.8916G>A	ENSP00000505508.1:p.Leu2972=
ENST00000380152.7:c.8916G>A	ENSP00000369497.3:p.Leu2972=
ENST00000528762.1:c.478G>A	ENSP00000433168.1:n.478G>A
ENST00000544455.5:c.8916G>A	ENSP00000439902.1:p.Leu2972=
NM_000059.3:c.8916G>A , LRG_293t1:c.8916G>A	NP_000050.2:p.Leu2972=
XM_011535203.1:c.8916G>A	XP_011533505.1:p.Leu2972=
XM_011535204.1:c.8820G>A	XP_011533506.1:p.Leu2940=
XM_011535205.1:c.8755-272G>A	XP_011533507.1:n.8755-272G>A
NM_000059.4:c.8916G>A MANE Select	NP_000050.3:p.Leu2972=