Canonical Allele Identifier: CA16604103

Gene: BARD1

Linked Data

• ClinVar Variation Id: 383266
• ClinVar RCV Id: RCV000439299 ; RCV001019073 ; RCV001433585
• dbSNP Id: rs758559877
• gnomAD v4: 2-214780950-A-C
• MyVariant Identifiers: chr2:g.215645674A>C (hg19) ; chr2:g.214780950A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780950A>C , CM000664.2:g.214780950A>C	GRCh38
NC_000002.11:g.215645674A>C , CM000664.1:g.215645674A>C	GRCh37
NC_000002.10:g.215353919A>C	NCBI36
NG_012047.2:g.33755T>G
NG_012047.3:g.33762T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.924T>G MANE Select	ENSP00000260947.4:p.Leu308=
ENST00000421162.2:c.215+16111T>G	ENSP00000392245.2:n.215+16111T>G
ENST00000613192.2:c.158+28462T>G	ENSP00000483275.2:n.158+28462T>G
ENST00000613374.5:c.159-28395T>G	ENSP00000484464.1:n.159-28395T>G
ENST00000613706.5:c.906+18T>G	ENSP00000484976.2:n.906+18T>G
ENST00000617164.5:c.867T>G	ENSP00000480470.1:p.Leu289=
ENST00000619009.5:c.364+11347T>G	ENSP00000482293.1:n.364+11347T>G
ENST00000650978.1:c.766T>G
ENST00000260947.8:c.924T>G	ENSP00000260947.4:p.Leu308=
ENST00000421162.1:c.215+16111T>G	ENSP00000392245.1:n.215+16111T>G
ENST00000455743.5:c.*544T>G	ENSP00000412186.1:n.*544T>G
ENST00000471787.1:n.819T>G
ENST00000613192.1:c.73+28462T>G	ENSP00000483275.1:n.73+28462T>G
ENST00000613374.4:c.159-28395T>G	ENSP00000484464.1:n.159-28395T>G
ENST00000613706.4:c.215+16111T>G	ENSP00000484976.1:n.215+16111T>G
ENST00000617164.4:c.867T>G	ENSP00000480470.1:p.Leu289=
ENST00000619009.4:c.364+11347T>G	ENSP00000482293.1:n.364+11347T>G
ENST00000620057.4:c.364+11347T>G	ENSP00000481988.1:n.364+11347T>G
NM_000465.3:c.924T>G	NP_000456.2:p.Leu308=
NM_001282543.1:c.867T>G	NP_001269472.1:p.Leu289=
NM_001282545.1:c.215+16111T>G	NP_001269474.1:n.215+16111T>G
NM_001282548.1:c.159-28395T>G	NP_001269477.1:n.159-28395T>G
NM_001282549.1:c.364+11347T>G	NP_001269478.1:n.364+11347T>G
NR_104212.1:n.917T>G
NR_104215.1:n.860T>G
NR_104216.1:n.506+11347T>G
XM_011511567.1:c.870T>G	XP_011509869.1:p.Leu290=
XM_011511568.1:c.924T>G	XP_011509870.1:p.Leu308=
XM_017004613.1:c.1023T>G	XP_016860102.1:p.Leu341=
XM_017004614.1:c.1023T>G	XP_016860103.1:p.Leu341=
XR_002959322.1:n.1114T>G
NM_000465.4:c.924T>G MANE Select	NP_000456.2:p.Leu308=
NM_001282543.2:c.867T>G	NP_001269472.1:p.Leu289=
NM_001282545.2:c.215+16111T>G	NP_001269474.1:n.215+16111T>G
NM_001282548.2:c.159-28395T>G	NP_001269477.1:n.159-28395T>G
NM_001282549.2:c.364+11347T>G	NP_001269478.1:n.364+11347T>G
NR_104212.2:n.889T>G
NR_104215.2:n.832T>G
NR_104216.2:n.478+11347T>G