Canonical Allele Identifier: CA6940967

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 427445
• ClinVar RCV Id: RCV001188457 ; RCV002526053 ; RCV003235245
• dbSNP Id: rs747048245
• ExAC: 13:32915026 T / C
• gnomAD v2: 13-32915026-T-C
• gnomAD v4: 13-32340889-T-C
• MyVariant Identifiers: chr13:g.32915026T>C (hg19) ; chr13:g.32340889T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32340889T>C , CM000675.2:g.32340889T>C	GRCh38
NC_000013.10:g.32915026T>C , CM000675.1:g.32915026T>C	GRCh37
NC_000013.9:g.31813026T>C	NCBI36
NG_012772.3:g.30410T>C , LRG_293:g.30410T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.6534T>C	ENSP00000434898.2:p.His2178=
ENST00000528762.2:c.6534T>C	ENSP00000433168.2:p.His2178=
ENST00000530893.7:c.6165T>C	ENSP00000499438.2:p.His2055=
ENST00000665585.2:c.6534T>C	ENSP00000499570.2:p.His2178=
ENST00000666593.2:c.6534T>C	ENSP00000499256.2:p.His2178=
ENST00000700202.2:c.6534T>C	ENSP00000514856.2:p.His2178=
ENST00000380152.8:c.6534T>C MANE Select	ENSP00000369497.3:p.His2178=
ENST00000544455.6:c.6534T>C	ENSP00000439902.1:p.His2178=
ENST00000614259.2:c.6534T>C	ENSP00000506251.1:p.His2178=
ENST00000680887.1:c.6534T>C	ENSP00000505508.1:p.His2178=
ENST00000380152.7:c.6534T>C	ENSP00000369497.3:p.His2178=
ENST00000544455.5:c.6534T>C	ENSP00000439902.1:p.His2178=
ENST00000614259.1:n.6534T>C
NM_000059.3:c.6534T>C , LRG_293t1:c.6534T>C	NP_000050.2:p.His2178=
XM_011535203.1:c.6534T>C	XP_011533505.1:p.His2178=
XM_011535204.1:c.6534T>C	XP_011533506.1:p.His2178=
XM_011535205.1:c.6534T>C	XP_011533507.1:p.His2178=
NM_000059.4:c.6534T>C MANE Select	NP_000050.3:p.His2178=