Canonical Allele Identifier: CA10589565

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 267159
• ClinVar RCV Id: RCV000256636 ; RCV001855038
• dbSNP Id: rs886040838
• MyVariant Identifiers: chr13:g.32968982T>G (hg19) ; chr13:g.32394845T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394845T>G , CM000675.2:g.32394845T>G	GRCh38
NC_000013.10:g.32968982T>G , CM000675.1:g.32968982T>G	GRCh37
NC_000013.9:g.31866982T>G	NCBI36
NG_012772.3:g.84366T>G , LRG_293:g.84366T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9413T>G	ENSP00000434898.2:p.Leu3138Ter
ENST00000528762.2:c.*780T>G	ENSP00000433168.2:n.*780T>G
ENST00000530893.7:c.9044T>G	ENSP00000499438.2:p.Leu3015Ter
ENST00000665585.2:c.*975T>G	ENSP00000499570.2:n.*975T>G
ENST00000666593.2:c.*258T>G	ENSP00000499256.2:n.*258T>G
ENST00000700202.2:c.9362T>G	ENSP00000514856.2:p.Leu3121Ter
ENST00000700202.1:c.1829T>G	ENSP00000514856.1:p.Leu610Ter
ENST00000700203.1:n.1540T>G
ENST00000380152.8:c.9413T>G MANE Select	ENSP00000369497.3:p.Leu3138Ter
ENST00000544455.6:c.9413T>G	ENSP00000439902.1:p.Leu3138Ter
ENST00000614259.2:c.9421T>G	ENSP00000506251.1:n.9421T>G
ENST00000665585.1:c.2291T>G
ENST00000666593.1:c.435T>G	ENSP00000499256.1:n.435T>G
ENST00000680887.1:c.9413T>G	ENSP00000505508.1:p.Leu3138Ter
ENST00000380152.7:c.9413T>G	ENSP00000369497.3:p.Leu3138Ter
ENST00000470094.1:c.370T>G
ENST00000544455.5:c.9413T>G	ENSP00000439902.1:p.Leu3138Ter
NM_000059.3:c.9413T>G , LRG_293t1:c.9413T>G	NP_000050.2:p.Leu3138Ter
XM_011535203.1:c.9413T>G	XP_011533505.1:p.Leu3138Ter
XM_011535204.1:c.9317T>G	XP_011533506.1:p.Leu3106Ter
NM_000059.4:c.9413T>G MANE Select	NP_000050.3:p.Leu3138Ter