Canonical Allele Identifier: CA10583126

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 236899
• ClinVar RCV Id: RCV000234596 ; RCV000771414 ; RCV003987461
• COSMIC: COSM6444639

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32355094_32355095delinsTG , CM000675.2:g.32355094_32355095delinsTG	GRCh38
NC_000013.10:g.32929231_32929232delinsTG , CM000675.1:g.32929231_32929232delinsTG	GRCh37
NC_000013.9:g.31827231_31827232delinsTG	NCBI36
NG_012772.3:g.44615_44616delinsTG , LRG_293:g.44615_44616delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7241_7242delinsTG	ENSP00000434898.2:p.Ser2414Leu
ENST00000528762.2:c.7241_7242delinsTG	ENSP00000433168.2:p.Ser2414Leu
ENST00000530893.7:c.6872_6873delinsTG	ENSP00000499438.2:p.Ser2291Leu
ENST00000665585.2:c.7241_7242delinsTG	ENSP00000499570.2:p.Ser2414Leu
ENST00000666593.2:c.7241_7242delinsTG	ENSP00000499256.2:p.Ser2414Leu
ENST00000700202.2:c.7241_7242delinsTG	ENSP00000514856.2:p.Ser2414Leu
ENST00000380152.8:c.7241_7242delinsTG MANE Select	ENSP00000369497.3:p.Ser2414Leu
ENST00000544455.6:c.7241_7242delinsTG	ENSP00000439902.1:p.Ser2414Leu
ENST00000614259.2:c.7241_7242delinsTG	ENSP00000506251.1:p.Ser2414Leu
ENST00000680887.1:c.7241_7242delinsTG	ENSP00000505508.1:p.Ser2414Leu
ENST00000380152.7:c.7241_7242delinsTG	ENSP00000369497.3:p.Ser2414Leu
ENST00000544455.5:c.7241_7242delinsTG	ENSP00000439902.1:p.Ser2414Leu
ENST00000614259.1:n.7241_7242delinsTG
NM_000059.3:c.7241_7242delinsTG , LRG_293t1:c.7241_7242delinsTG	NP_000050.2:p.Ser2414Leu
XM_011535203.1:c.7241_7242delinsTG	XP_011533505.1:p.Ser2414Leu
XM_011535204.1:c.7145_7146delinsTG	XP_011533506.1:p.Ser2382Leu
XM_011535205.1:c.7241_7242delinsTG	XP_011533507.1:p.Ser2414Leu
NM_000059.4:c.7241_7242delinsTG MANE Select	NP_000050.3:p.Ser2414Leu