Canonical Allele Identifier: CA387766753

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 823538
• ClinVar RCV Id: RCV001019858
• dbSNP Id: rs1346315597
• MyVariant Identifiers: chr13:g.32972534A>T (hg19) ; chr13:g.32398397A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398397A>T , CM000675.2:g.32398397A>T	GRCh38
NC_000013.10:g.32972534A>T , CM000675.1:g.32972534A>T	GRCh37
NC_000013.9:g.31870534A>T	NCBI36
NG_012772.3:g.87918A>T , LRG_293:g.87918A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*407A>T	ENSP00000434898.2:n.*407A>T
ENST00000528762.2:c.*1251A>T	ENSP00000433168.2:n.*1251A>T
ENST00000530893.7:c.9515A>T	ENSP00000499438.2:p.Gln3172Leu
ENST00000665585.2:c.*1446A>T	ENSP00000499570.2:n.*1446A>T
ENST00000700202.2:c.9833A>T	ENSP00000514856.2:p.Gln3278Leu
ENST00000700202.1:c.2300A>T	ENSP00000514856.1:p.Gln767Leu
ENST00000700203.1:n.2011A>T
ENST00000380152.8:c.9884A>T MANE Select	ENSP00000369497.3:p.Gln3295Leu
ENST00000544455.6:c.9884A>T	ENSP00000439902.1:p.Gln3295Leu
ENST00000614259.2:c.9892A>T	ENSP00000506251.1:n.9892A>T
ENST00000680887.1:c.9884A>T	ENSP00000505508.1:p.Gln3295Leu
ENST00000380152.7:c.9884A>T	ENSP00000369497.3:p.Gln3295Leu
ENST00000533776.1:n.472A>T
ENST00000544455.5:c.9884A>T	ENSP00000439902.1:p.Gln3295Leu
NM_000059.3:c.9884A>T , LRG_293t1:c.9884A>T	NP_000050.2:p.Gln3295Leu
XM_011535203.1:c.9884A>T	XP_011533505.1:p.Gln3295Leu
XM_011535204.1:c.9788A>T	XP_011533506.1:p.Gln3263Leu
NM_000059.4:c.9884A>T MANE Select	NP_000050.3:p.Gln3295Leu