Canonical Allele Identifier: CA387760842

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 462528
• ClinVar RCV Id: RCV000558233 ; RCV001019406
• dbSNP Id: rs1555281645
• MyVariant Identifiers: chr13:g.32906564A>G (hg19) ; chr13:g.32332427A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32332427A>G , CM000675.2:g.32332427A>G	GRCh38
NC_000013.10:g.32906564A>G , CM000675.1:g.32906564A>G	GRCh37
NC_000013.9:g.31804564A>G	NCBI36
NG_012772.3:g.21948A>G , LRG_293:g.21948A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.949A>G	ENSP00000434898.2:p.Thr317Ala
ENST00000528762.2:c.949A>G	ENSP00000433168.2:p.Thr317Ala
ENST00000530893.7:c.580A>G	ENSP00000499438.2:p.Thr194Ala
ENST00000665585.2:c.949A>G	ENSP00000499570.2:p.Thr317Ala
ENST00000666593.2:c.949A>G	ENSP00000499256.2:p.Thr317Ala
ENST00000700202.2:c.949A>G	ENSP00000514856.2:p.Thr317Ala
ENST00000700201.1:c.*728A>G	ENSP00000514855.1:n.*728A>G
ENST00000380152.8:c.949A>G MANE Select	ENSP00000369497.3:p.Thr317Ala
ENST00000544455.6:c.949A>G	ENSP00000439902.1:p.Thr317Ala
ENST00000614259.2:c.949A>G	ENSP00000506251.1:p.Thr317Ala
ENST00000680887.1:c.949A>G	ENSP00000505508.1:p.Thr317Ala
ENST00000380152.7:c.949A>G	ENSP00000369497.3:p.Thr317Ala
ENST00000530893.6:n.1147A>G
ENST00000544455.5:c.949A>G	ENSP00000439902.1:p.Thr317Ala
ENST00000614259.1:n.949A>G
NM_000059.3:c.949A>G , LRG_293t1:c.949A>G	NP_000050.2:p.Thr317Ala
XM_011535203.1:c.949A>G	XP_011533505.1:p.Thr317Ala
XM_011535204.1:c.949A>G	XP_011533506.1:p.Thr317Ala
XM_011535205.1:c.949A>G	XP_011533507.1:p.Thr317Ala
NM_000059.4:c.949A>G MANE Select	NP_000050.3:p.Thr317Ala