Canonical Allele Identifier: CA913190732

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 633135
• ClinVar RCV Id: RCV000781164 ; RCV001327689
• dbSNP Id: rs1566253060

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379771_32379772insTGATTT , CM000675.2:g.32379771_32379772insTGATTT	GRCh38
NC_000013.10:g.32953908_32953909insTGATTT , CM000675.1:g.32953908_32953909insTGATTT	GRCh37
NC_000013.9:g.31851908_31851909insTGATTT	NCBI36
NG_012772.3:g.69292_69293insTGATTT , LRG_293:g.69292_69293insTGATTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8975_8976insTGATTT	ENSP00000434898.2:p.Pro2992_Ser2993insAspLeu
ENST00000528762.2:c.*342_*343insTGATTT	ENSP00000433168.2:n.*342_*343insTGATTT
ENST00000530893.7:c.8606_8607insTGATTT	ENSP00000499438.2:p.Pro2869_Ser2870insAspLeu
ENST00000665585.2:c.*537_*538insTGATTT	ENSP00000499570.2:n.*537_*538insTGATTT
ENST00000666593.2:c.8975_8976insTGATTT	ENSP00000499256.2:p.Pro2992_Ser2993insAspLeu
ENST00000700202.2:c.8954-30_8954-29insTGATTT	ENSP00000514856.2:n.8954-30_8954-29insTGATTT
ENST00000700202.1:c.1421-30_1421-29insTGATTT	ENSP00000514856.1:n.1421-30_1421-29insTGATTT
ENST00000700203.1:n.1102_1103insTGATTT
ENST00000380152.8:c.8975_8976insTGATTT MANE Select	ENSP00000369497.3:p.Pro2992_Ser2993insAspLeu
ENST00000544455.6:c.8975_8976insTGATTT	ENSP00000439902.1:p.Pro2992_Ser2993insAspLeu
ENST00000614259.2:c.8983_8984insTGATTT	ENSP00000506251.1:n.8983_8984insTGATTT
ENST00000665585.1:c.1853_1854insTGATTT
ENST00000680887.1:c.8975_8976insTGATTT	ENSP00000505508.1:p.Pro2992_Ser2993insAspLeu
ENST00000380152.7:c.8975_8976insTGATTT	ENSP00000369497.3:p.Pro2992_Ser2993insAspLeu
ENST00000544455.5:c.8975_8976insTGATTT	ENSP00000439902.1:p.Pro2992_Ser2993insAspLeu
NM_000059.3:c.8975_8976insTGATTT , LRG_293t1:c.8975_8976insTGATTT	NP_000050.2:p.Pro2992_Ser2993insAspLeu
XM_011535203.1:c.8975_8976insTGATTT	XP_011533505.1:p.Pro2992_Ser2993insAspLeu
XM_011535204.1:c.8879_8880insTGATTT	XP_011533506.1:p.Pro2960_Ser2961insAspLeu
XM_011535205.1:c.*13_*14insTGATTT	XP_011533507.1:n.*13_*14insTGATTT
NM_000059.4:c.8975_8976insTGATTT MANE Select	NP_000050.3:p.Pro2992_Ser2993insAspLeu