Canonical Allele Identifier: CA6940857

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 254555
• ClinVar RCV Id: RCV000241313 ; RCV000509883 ; RCV000550517 ; RCV000657807
• dbSNP Id: rs749980674
• ExAC: 13:32913733 C / CTA
• gnomAD v2: 13-32913733-C-CTA
• gnomAD v3: 13-32339596-C-CTA
• gnomAD v4: 13-32339596-C-CTA
• MyVariant Identifiers: chr13:g.32913733_32913734insTA (hg19) ; chr13:g.32339596_32339597insTA (hg38)
• PubMed: PMID:22034289

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32339596_32339597insTA , CM000675.2:g.32339596_32339597insTA	GRCh38
NC_000013.10:g.32913733_32913734insTA , CM000675.1:g.32913733_32913734insTA	GRCh37
NC_000013.9:g.31811733_31811734insTA	NCBI36
NG_012772.3:g.29117_29118insTA , LRG_293:g.29117_29118insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.5241_5242insTA	ENSP00000434898.2:p.Ser1748Ter
ENST00000528762.2:c.5241_5242insTA	ENSP00000433168.2:p.Ser1748Ter
ENST00000530893.7:c.4872_4873insTA	ENSP00000499438.2:p.Ser1625Ter
ENST00000665585.2:c.5241_5242insTA	ENSP00000499570.2:p.Ser1748Ter
ENST00000666593.2:c.5241_5242insTA	ENSP00000499256.2:p.Ser1748Ter
ENST00000700202.2:c.5241_5242insTA	ENSP00000514856.2:p.Ser1748Ter
ENST00000380152.8:c.5241_5242insTA MANE Select	ENSP00000369497.3:p.Ser1748Ter
ENST00000544455.6:c.5241_5242insTA	ENSP00000439902.1:p.Ser1748Ter
ENST00000614259.2:c.5241_5242insTA	ENSP00000506251.1:p.Ser1748Ter
ENST00000680887.1:c.5241_5242insTA	ENSP00000505508.1:p.Ser1748Ter
ENST00000380152.7:c.5241_5242insTA	ENSP00000369497.3:p.Ser1748Ter
ENST00000544455.5:c.5241_5242insTA	ENSP00000439902.1:p.Ser1748Ter
ENST00000614259.1:n.5241_5242insTA
NM_000059.3:c.5241_5242insTA , LRG_293t1:c.5241_5242insTA	NP_000050.2:p.Ser1748Ter
XM_011535203.1:c.5241_5242insTA	XP_011533505.1:p.Ser1748Ter
XM_011535204.1:c.5241_5242insTA	XP_011533506.1:p.Ser1748Ter
XM_011535205.1:c.5241_5242insTA	XP_011533507.1:p.Ser1748Ter
NM_000059.4:c.5241_5242insTA MANE Select	NP_000050.3:p.Ser1748Ter