Canonical Allele Identifier: CA387765646

Gene: BRCA2

Linked Data

• dbSNP Id: rs1555289943
• MyVariant Identifiers: chr13:g.32972396C>G (hg19) ; chr13:g.32398259C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398259C>G , CM000675.2:g.32398259C>G	GRCh38
NC_000013.10:g.32972396C>G , CM000675.1:g.32972396C>G	GRCh37
NC_000013.9:g.31870396C>G	NCBI36
NG_012772.3:g.87780C>G , LRG_293:g.87780C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*269C>G	ENSP00000434898.2:n.*269C>G
ENST00000528762.2:c.*1113C>G	ENSP00000433168.2:n.*1113C>G
ENST00000530893.7:c.9377C>G	ENSP00000499438.2:p.Thr3126Ser
ENST00000665585.2:c.*1308C>G	ENSP00000499570.2:n.*1308C>G
ENST00000700202.2:c.9695C>G	ENSP00000514856.2:p.Thr3232Ser
ENST00000700202.1:c.2162C>G	ENSP00000514856.1:p.Thr721Ser
ENST00000700203.1:n.1873C>G
ENST00000380152.8:c.9746C>G MANE Select	ENSP00000369497.3:p.Thr3249Ser
ENST00000544455.6:c.9746C>G	ENSP00000439902.1:p.Thr3249Ser
ENST00000614259.2:c.9754C>G	ENSP00000506251.1:n.9754C>G
ENST00000680887.1:c.9746C>G	ENSP00000505508.1:p.Thr3249Ser
ENST00000380152.7:c.9746C>G	ENSP00000369497.3:p.Thr3249Ser
ENST00000470094.1:c.829C>G
ENST00000533776.1:n.334C>G
ENST00000544455.5:c.9746C>G	ENSP00000439902.1:p.Thr3249Ser
NM_000059.3:c.9746C>G , LRG_293t1:c.9746C>G	NP_000050.2:p.Thr3249Ser
XM_011535203.1:c.9746C>G	XP_011533505.1:p.Thr3249Ser
XM_011535204.1:c.9650C>G	XP_011533506.1:p.Thr3217Ser
NM_000059.4:c.9746C>G MANE Select	NP_000050.3:p.Thr3249Ser