Canonical Allele Identifier: CA387765648

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 491389
• ClinVar RCV Id: RCV000584682 ; RCV000637585 ; RCV000662591
• dbSNP Id: rs1555289943
• gnomAD v4: 13-32398259-C-T
• MyVariant Identifiers: chr13:g.32972396C>T (hg19) ; chr13:g.32398259C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*269C>T	ENSP00000434898.2:n.*269C>T
ENST00000528762.2:c.*1113C>T	ENSP00000433168.2:n.*1113C>T
ENST00000530893.7:c.9377C>T	ENSP00000499438.2:p.Thr3126Ile
ENST00000665585.2:c.*1308C>T	ENSP00000499570.2:n.*1308C>T
ENST00000700202.2:c.9695C>T	ENSP00000514856.2:p.Thr3232Ile
ENST00000700202.1:c.2162C>T	ENSP00000514856.1:p.Thr721Ile
ENST00000700203.1:n.1873C>T
ENST00000380152.8:c.9746C>T MANE Select	ENSP00000369497.3:p.Thr3249Ile
ENST00000544455.6:c.9746C>T	ENSP00000439902.1:p.Thr3249Ile
ENST00000614259.2:c.9754C>T	ENSP00000506251.1:n.9754C>T
ENST00000680887.1:c.9746C>T	ENSP00000505508.1:p.Thr3249Ile
ENST00000380152.7:c.9746C>T	ENSP00000369497.3:p.Thr3249Ile
ENST00000470094.1:c.829C>T
ENST00000533776.1:n.334C>T
ENST00000544455.5:c.9746C>T	ENSP00000439902.1:p.Thr3249Ile
NM_000059.3:c.9746C>T , LRG_293t1:c.9746C>T	NP_000050.2:p.Thr3249Ile
XM_011535203.1:c.9746C>T	XP_011533505.1:p.Thr3249Ile
XM_011535204.1:c.9650C>T	XP_011533506.1:p.Thr3217Ile
NM_000059.4:c.9746C>T MANE Select	NP_000050.3:p.Thr3249Ile