Canonical Allele Identifier: CA387758402

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32954241T>G (hg19) ; chr13:g.32380104T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380104T>G , CM000675.2:g.32380104T>G	GRCh38
NC_000013.10:g.32954241T>G , CM000675.1:g.32954241T>G	GRCh37
NC_000013.9:g.31852241T>G	NCBI36
NG_012772.3:g.69625T>G , LRG_293:g.69625T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9215T>G	ENSP00000434898.2:p.Val3072Gly
ENST00000528762.2:c.*582T>G	ENSP00000433168.2:n.*582T>G
ENST00000530893.7:c.8846T>G	ENSP00000499438.2:p.Val2949Gly
ENST00000665585.2:c.*777T>G	ENSP00000499570.2:n.*777T>G
ENST00000666593.2:c.9215T>G	ENSP00000499256.2:p.Val3072Gly
ENST00000700202.2:c.9164T>G	ENSP00000514856.2:p.Val3055Gly
ENST00000700202.1:c.1631T>G	ENSP00000514856.1:p.Val544Gly
ENST00000700203.1:n.1342T>G
ENST00000380152.8:c.9215T>G MANE Select	ENSP00000369497.3:p.Val3072Gly
ENST00000544455.6:c.9215T>G	ENSP00000439902.1:p.Val3072Gly
ENST00000614259.2:c.9223T>G	ENSP00000506251.1:n.9223T>G
ENST00000665585.1:c.2093T>G
ENST00000666593.1:c.98T>G	ENSP00000499256.1:p.Val33Gly
ENST00000680887.1:c.9215T>G	ENSP00000505508.1:p.Val3072Gly
ENST00000380152.7:c.9215T>G	ENSP00000369497.3:p.Val3072Gly
ENST00000470094.1:c.172T>G
ENST00000544455.5:c.9215T>G	ENSP00000439902.1:p.Val3072Gly
NM_000059.3:c.9215T>G , LRG_293t1:c.9215T>G	NP_000050.2:p.Val3072Gly
XM_011535203.1:c.9215T>G	XP_011533505.1:p.Val3072Gly
XM_011535204.1:c.9119T>G	XP_011533506.1:p.Val3040Gly
NM_000059.4:c.9215T>G MANE Select	NP_000050.3:p.Val3072Gly