Canonical Allele Identifier: CA026029

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52775
• ClinVar RCV Id: RCV000113123 ; RCV001378307
• dbSNP Id: rs80359182
• MyVariant Identifiers: chr13:g.32893237T>C (hg19) ; chr13:g.32319100T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32319100T>C , CM000675.2:g.32319100T>C	GRCh38
NC_000013.10:g.32893237T>C , CM000675.1:g.32893237T>C	GRCh37
NC_000013.9:g.31791237T>C	NCBI36
NG_012772.3:g.8621T>C , LRG_293:g.8621T>C
NG_017006.2:g.1264A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000380152.8:c.91T>C MANE Select	ENSP00000369497.3:p.Trp31Arg
ENST00000544455.6:c.91T>C	ENSP00000439902.1:p.Trp31Arg
ENST00000614259.2:c.91T>C	ENSP00000506251.1:p.Trp31Arg
ENST00000680887.1:c.91T>C	ENSP00000505508.1:p.Trp31Arg
ENST00000380152.7:c.91T>C	ENSP00000369497.3:p.Trp31Arg
ENST00000530893.6:n.289T>C
ENST00000544455.5:c.91T>C	ENSP00000439902.1:p.Trp31Arg
ENST00000614259.1:n.91T>C
NM_000059.3:c.91T>C , LRG_293t1:c.91T>C	NP_000050.2:p.Trp31Arg
XM_011535203.1:c.91T>C	XP_011533505.1:p.Trp31Arg
XM_011535204.1:c.91T>C	XP_011533506.1:p.Trp31Arg
XM_011535205.1:c.91T>C	XP_011533507.1:p.Trp31Arg
NM_000059.4:c.91T>C MANE Select	NP_000050.3:p.Trp31Arg