Canonical Allele Identifier: CA298458

Gene: BARD1

Linked Data

• ClinVar Variation Id: 182043
• ClinVar RCV Id: RCV000159812 ; RCV000216014 ; RCV000524916 ; RCV000780951 ; RCV003492644
• dbSNP Id: rs201261729
• ExAC: 2:215645582 C / T
• gnomAD v2: 2-215645582-C-T
• gnomAD v3: 2-214780858-C-T
• gnomAD v4: 2-214780858-C-T
• MyVariant Identifiers: chr2:g.215645582C>T (hg19) ; chr2:g.214780858C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780858C>T , CM000664.2:g.214780858C>T	GRCh38
NC_000002.11:g.215645582C>T , CM000664.1:g.215645582C>T	GRCh37
NC_000002.10:g.215353827C>T	NCBI36
NG_012047.2:g.33847G>A
NG_012047.3:g.33854G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1016G>A MANE Select	ENSP00000260947.4:p.Ser339Asn
ENST00000421162.2:c.215+16203G>A	ENSP00000392245.2:n.215+16203G>A
ENST00000613192.2:c.158+28554G>A	ENSP00000483275.2:n.158+28554G>A
ENST00000613374.5:c.159-28303G>A	ENSP00000484464.1:n.159-28303G>A
ENST00000613706.5:c.906+110G>A	ENSP00000484976.2:n.906+110G>A
ENST00000617164.5:c.959G>A	ENSP00000480470.1:p.Ser320Asn
ENST00000619009.5:c.364+11439G>A	ENSP00000482293.1:n.364+11439G>A
ENST00000650978.1:c.858G>A
ENST00000260947.8:c.1016G>A	ENSP00000260947.4:p.Ser339Asn
ENST00000421162.1:c.215+16203G>A	ENSP00000392245.1:n.215+16203G>A
ENST00000455743.5:c.*636G>A	ENSP00000412186.1:n.*636G>A
ENST00000613192.1:c.73+28554G>A	ENSP00000483275.1:n.73+28554G>A
ENST00000613374.4:c.159-28303G>A	ENSP00000484464.1:n.159-28303G>A
ENST00000613706.4:c.215+16203G>A	ENSP00000484976.1:n.215+16203G>A
ENST00000617164.4:c.959G>A	ENSP00000480470.1:p.Ser320Asn
ENST00000619009.4:c.364+11439G>A	ENSP00000482293.1:n.364+11439G>A
ENST00000620057.4:c.364+11439G>A	ENSP00000481988.1:n.364+11439G>A
NM_000465.3:c.1016G>A	NP_000456.2:p.Ser339Asn
NM_001282543.1:c.959G>A	NP_001269472.1:p.Ser320Asn
NM_001282545.1:c.215+16203G>A	NP_001269474.1:n.215+16203G>A
NM_001282548.1:c.159-28303G>A	NP_001269477.1:n.159-28303G>A
NM_001282549.1:c.364+11439G>A	NP_001269478.1:n.364+11439G>A
NR_104212.1:n.1009G>A
NR_104215.1:n.952G>A
NR_104216.1:n.506+11439G>A
XM_011511567.1:c.962G>A	XP_011509869.1:p.Ser321Asn
XM_011511568.1:c.1016G>A	XP_011509870.1:p.Ser339Asn
XM_017004613.1:c.1115G>A	XP_016860102.1:p.Ser372Asn
XM_017004614.1:c.1115G>A	XP_016860103.1:p.Ser372Asn
XR_002959322.1:n.1206G>A
NM_000465.4:c.1016G>A MANE Select	NP_000456.2:p.Ser339Asn
NM_001282543.2:c.959G>A	NP_001269472.1:p.Ser320Asn
NM_001282545.2:c.215+16203G>A	NP_001269474.1:n.215+16203G>A
NM_001282548.2:c.159-28303G>A	NP_001269477.1:n.159-28303G>A
NM_001282549.2:c.364+11439G>A	NP_001269478.1:n.364+11439G>A
NR_104212.2:n.981G>A
NR_104215.2:n.924G>A
NR_104216.2:n.478+11439G>A