Canonical Allele Identifier: CA1139663133

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 954638
• ClinVar RCV Id: RCV001227133
• dbSNP Id: rs2072747524

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32362632_32362633delinsTT , CM000675.2:g.32362632_32362633delinsTT	GRCh38
NC_000013.10:g.32936769_32936770delinsTT , CM000675.1:g.32936769_32936770delinsTT	GRCh37
NC_000013.9:g.31834769_31834770delinsTT	NCBI36
NG_012772.3:g.52153_52154delinsTT , LRG_293:g.52153_52154delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7915_7916delinsTT	ENSP00000434898.2:p.Pro2639Phe
ENST00000528762.2:c.7915_7916delinsTT	ENSP00000433168.2:p.Pro2639Phe
ENST00000530893.7:c.7546_7547delinsTT	ENSP00000499438.2:p.Pro2516Phe
ENST00000665585.2:c.7915_7916delinsTT	ENSP00000499570.2:p.Pro2639Phe
ENST00000666593.2:c.7915_7916delinsTT	ENSP00000499256.2:p.Pro2639Phe
ENST00000700202.2:c.7915_7916delinsTT	ENSP00000514856.2:p.Pro2639Phe
ENST00000700202.1:c.382_383delinsTT	ENSP00000514856.1:p.Pro128Phe
ENST00000380152.8:c.7915_7916delinsTT MANE Select	ENSP00000369497.3:p.Pro2639Phe
ENST00000544455.6:c.7915_7916delinsTT	ENSP00000439902.1:p.Pro2639Phe
ENST00000614259.2:c.7923_7924delinsTT	ENSP00000506251.1:p.Phe2641=
ENST00000665585.1:c.480_481delinsTT
ENST00000680887.1:c.7915_7916delinsTT	ENSP00000505508.1:p.Pro2639Phe
ENST00000380152.7:c.7915_7916delinsTT	ENSP00000369497.3:p.Pro2639Phe
ENST00000544455.5:c.7915_7916delinsTT	ENSP00000439902.1:p.Pro2639Phe
ENST00000614259.1:n.7923_7924delinsTT
NM_000059.3:c.7915_7916delinsTT , LRG_293t1:c.7915_7916delinsTT	NP_000050.2:p.Pro2639Phe
XM_011535203.1:c.7915_7916delinsTT	XP_011533505.1:p.Pro2639Phe
XM_011535204.1:c.7819_7820delinsTT	XP_011533506.1:p.Pro2607Phe
XM_011535205.1:c.7915_7916delinsTT	XP_011533507.1:p.Pro2639Phe
NM_000059.4:c.7915_7916delinsTT MANE Select	NP_000050.3:p.Pro2639Phe