Canonical Allele Identifier: CA387765721

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137663562
• MyVariant Identifiers: chr13:g.32972407T>A (hg19) ; chr13:g.32398270T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398270T>A , CM000675.2:g.32398270T>A	GRCh38
NC_000013.10:g.32972407T>A , CM000675.1:g.32972407T>A	GRCh37
NC_000013.9:g.31870407T>A	NCBI36
NG_012772.3:g.87791T>A , LRG_293:g.87791T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*280T>A	ENSP00000434898.2:n.*280T>A
ENST00000528762.2:c.*1124T>A	ENSP00000433168.2:n.*1124T>A
ENST00000530893.7:c.9388T>A	ENSP00000499438.2:p.Cys3130Ser
ENST00000665585.2:c.*1319T>A	ENSP00000499570.2:n.*1319T>A
ENST00000700202.2:c.9706T>A	ENSP00000514856.2:p.Cys3236Ser
ENST00000700202.1:c.2173T>A	ENSP00000514856.1:p.Cys725Ser
ENST00000700203.1:n.1884T>A
ENST00000380152.8:c.9757T>A MANE Select	ENSP00000369497.3:p.Cys3253Ser
ENST00000544455.6:c.9757T>A	ENSP00000439902.1:p.Cys3253Ser
ENST00000614259.2:c.9765T>A	ENSP00000506251.1:n.9765T>A
ENST00000680887.1:c.9757T>A	ENSP00000505508.1:p.Cys3253Ser
ENST00000380152.7:c.9757T>A	ENSP00000369497.3:p.Cys3253Ser
ENST00000470094.1:c.840T>A
ENST00000533776.1:n.345T>A
ENST00000544455.5:c.9757T>A	ENSP00000439902.1:p.Cys3253Ser
NM_000059.3:c.9757T>A , LRG_293t1:c.9757T>A	NP_000050.2:p.Cys3253Ser
XM_011535203.1:c.9757T>A	XP_011533505.1:p.Cys3253Ser
XM_011535204.1:c.9661T>A	XP_011533506.1:p.Cys3221Ser
NM_000059.4:c.9757T>A MANE Select	NP_000050.3:p.Cys3253Ser