Canonical Allele Identifier: CA387748738

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 489785
• ClinVar RCV Id: RCV001212985 ; RCV000579856 ; RCV003886416
• dbSNP Id: rs80359035
• MyVariant Identifiers: chr13:g.32937348C>G (hg19) ; chr13:g.32363211C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32363211C>G , CM000675.2:g.32363211C>G	GRCh38
NC_000013.10:g.32937348C>G , CM000675.1:g.32937348C>G	GRCh37
NC_000013.9:g.31835348C>G	NCBI36
NG_012772.3:g.52732C>G , LRG_293:g.52732C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8009C>G	ENSP00000434898.2:p.Ser2670Trp
ENST00000528762.2:c.8009C>G	ENSP00000433168.2:p.Ser2670Trp
ENST00000530893.7:c.7640C>G	ENSP00000499438.2:p.Ser2547Trp
ENST00000665585.2:c.8009C>G	ENSP00000499570.2:p.Ser2670Trp
ENST00000666593.2:c.8009C>G	ENSP00000499256.2:p.Ser2670Trp
ENST00000700202.2:c.8009C>G	ENSP00000514856.2:p.Ser2670Trp
ENST00000700202.1:c.476C>G	ENSP00000514856.1:p.Ser159Trp
ENST00000380152.8:c.8009C>G MANE Select	ENSP00000369497.3:p.Ser2670Trp
ENST00000544455.6:c.8009C>G	ENSP00000439902.1:p.Ser2670Trp
ENST00000614259.2:c.8017C>G	ENSP00000506251.1:n.8017C>G
ENST00000665585.1:c.574C>G
ENST00000680887.1:c.8009C>G	ENSP00000505508.1:p.Ser2670Trp
ENST00000380152.7:c.8009C>G	ENSP00000369497.3:p.Ser2670Trp
ENST00000544455.5:c.8009C>G	ENSP00000439902.1:p.Ser2670Trp
NM_000059.3:c.8009C>G , LRG_293t1:c.8009C>G	NP_000050.2:p.Ser2670Trp
XM_011535203.1:c.8009C>G	XP_011533505.1:p.Ser2670Trp
XM_011535204.1:c.7913C>G	XP_011533506.1:p.Ser2638Trp
XM_011535205.1:c.8009C>G	XP_011533507.1:p.Ser2670Trp
NM_000059.4:c.8009C>G MANE Select	NP_000050.3:p.Ser2670Trp