Canonical Allele Identifier: CA348848

Gene: BARD1

Linked Data

• ClinVar Variation Id: 220204
• ClinVar RCV Id: RCV001483702 ; RCV003362727
• dbSNP Id: rs864622419
• gnomAD v4: 2-214809519-C-G
• MyVariant Identifiers: chr2:g.215674243C>G (hg19) ; chr2:g.214809519C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214809519C>G , CM000664.2:g.214809519C>G	GRCh38
NC_000002.11:g.215674243C>G , CM000664.1:g.215674243C>G	GRCh37
NC_000002.10:g.215382488C>G	NCBI36
NG_012047.2:g.5186G>C
NG_012047.3:g.5193G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.51G>C MANE Select	ENSP00000260947.4:p.Gly17=
ENST00000421162.2:c.51G>C	ENSP00000392245.2:p.Gly17=
ENST00000613192.2:c.51G>C	ENSP00000483275.2:p.Gly17=
ENST00000613374.5:c.51G>C	ENSP00000484464.1:p.Gly17=
ENST00000613706.5:c.51G>C	ENSP00000484976.2:p.Gly17=
ENST00000617164.5:c.51G>C	ENSP00000480470.1:p.Gly17=
ENST00000619009.5:c.51G>C	ENSP00000482293.1:p.Gly17=
ENST00000260947.8:c.51G>C	ENSP00000260947.4:p.Gly17=
ENST00000421162.1:c.51G>C	ENSP00000392245.1:p.Gly17=
ENST00000455743.5:c.51G>C	ENSP00000412186.1:p.Gly17=
ENST00000471787.1:n.152G>C
ENST00000479904.1:n.142G>C
ENST00000613192.1:c.-35G>C	ENSP00000483275.1:n.-35G>C
ENST00000613374.4:c.51G>C	ENSP00000484464.1:p.Gly17=
ENST00000613706.4:c.51G>C	ENSP00000484976.1:p.Gly17=
ENST00000617164.4:c.51G>C	ENSP00000480470.1:p.Gly17=
ENST00000619009.4:c.51G>C	ENSP00000482293.1:p.Gly17=
ENST00000620057.4:c.51G>C	ENSP00000481988.1:p.Gly17=
NM_000465.3:c.51G>C	NP_000456.2:p.Gly17=
NM_001282543.1:c.51G>C	NP_001269472.1:p.Gly17=
NM_001282545.1:c.51G>C	NP_001269474.1:p.Gly17=
NM_001282548.1:c.51G>C	NP_001269477.1:p.Gly17=
NM_001282549.1:c.51G>C	NP_001269478.1:p.Gly17=
NR_104212.1:n.193G>C
NR_104215.1:n.193G>C
NR_104216.1:n.193G>C
XM_011511568.1:c.51G>C	XP_011509870.1:p.Gly17=
XM_017004613.1:c.51G>C	XP_016860102.1:p.Gly17=
XM_017004614.1:c.51G>C	XP_016860103.1:p.Gly17=
XR_002959322.1:n.142G>C
NM_000465.4:c.51G>C MANE Select	NP_000456.2:p.Gly17=
NM_001282543.2:c.51G>C	NP_001269472.1:p.Gly17=
NM_001282545.2:c.51G>C	NP_001269474.1:p.Gly17=
NM_001282548.2:c.51G>C	NP_001269477.1:p.Gly17=
NM_001282549.2:c.51G>C	NP_001269478.1:p.Gly17=
NR_104212.2:n.165G>C
NR_104215.2:n.165G>C
NR_104216.2:n.165G>C