Canonical Allele Identifier: CA16619796

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 418945
• ClinVar RCV Id: RCV000485969 ; RCV000700622 ; RCV001262538
• dbSNP Id: rs1064793542
• MyVariant Identifiers: chr13:g.32972335C>T (hg19) ; chr13:g.32398198C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398198C>T , CM000675.2:g.32398198C>T	GRCh38
NC_000013.10:g.32972335C>T , CM000675.1:g.32972335C>T	GRCh37
NC_000013.9:g.31870335C>T	NCBI36
NG_012772.3:g.87719C>T , LRG_293:g.87719C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*208C>T	ENSP00000434898.2:n.*208C>T
ENST00000528762.2:c.*1052C>T	ENSP00000433168.2:n.*1052C>T
ENST00000530893.7:c.9316C>T	ENSP00000499438.2:p.Pro3106Ser
ENST00000665585.2:c.*1247C>T	ENSP00000499570.2:n.*1247C>T
ENST00000700202.2:c.9634C>T	ENSP00000514856.2:p.Pro3212Ser
ENST00000700202.1:c.2101C>T	ENSP00000514856.1:p.Pro701Ser
ENST00000700203.1:n.1812C>T
ENST00000380152.8:c.9685C>T MANE Select	ENSP00000369497.3:p.Pro3229Ser
ENST00000544455.6:c.9685C>T	ENSP00000439902.1:p.Pro3229Ser
ENST00000614259.2:c.9693C>T	ENSP00000506251.1:n.9693C>T
ENST00000665585.1:c.2563C>T
ENST00000680887.1:c.9685C>T	ENSP00000505508.1:p.Pro3229Ser
ENST00000380152.7:c.9685C>T	ENSP00000369497.3:p.Pro3229Ser
ENST00000470094.1:c.768C>T
ENST00000533776.1:n.273C>T
ENST00000544455.5:c.9685C>T	ENSP00000439902.1:p.Pro3229Ser
NM_000059.3:c.9685C>T , LRG_293t1:c.9685C>T	NP_000050.2:p.Pro3229Ser
XM_011535203.1:c.9685C>T	XP_011533505.1:p.Pro3229Ser
XM_011535204.1:c.9589C>T	XP_011533506.1:p.Pro3197Ser
NM_000059.4:c.9685C>T MANE Select	NP_000050.3:p.Pro3229Ser