Canonical Allele Identifier: CA350455152

Gene: BARD1

Linked Data

• ClinVar Variation Id: 485322
• ClinVar RCV Id: RCV000573008 ; RCV000697402
• dbSNP Id: rs1448645093
• gnomAD v2: 2-215645714-T-C
• gnomAD v4: 2-214780990-T-C
• MyVariant Identifiers: chr2:g.215645714T>C (hg19) ; chr2:g.214780990T>C (hg38)
• PubMed: PMID:11807980 ; PMID:16061562 ; PMID:19584272 ; PMID:26738429

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780990T>C , CM000664.2:g.214780990T>C	GRCh38
NC_000002.11:g.215645714T>C , CM000664.1:g.215645714T>C	GRCh37
NC_000002.10:g.215353959T>C	NCBI36
NG_012047.2:g.33715A>G
NG_012047.3:g.33722A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.884A>G MANE Select	ENSP00000260947.4:p.Asn295Ser
ENST00000421162.2:c.215+16071A>G	ENSP00000392245.2:n.215+16071A>G
ENST00000613192.2:c.158+28422A>G	ENSP00000483275.2:n.158+28422A>G
ENST00000613374.5:c.158+28422A>G	ENSP00000484464.1:n.158+28422A>G
ENST00000613706.5:c.884A>G	ENSP00000484976.2:p.Asn295Ser
ENST00000617164.5:c.827A>G	ENSP00000480470.1:p.Asn276Ser
ENST00000619009.5:c.364+11307A>G	ENSP00000482293.1:n.364+11307A>G
ENST00000650978.1:c.726A>G
ENST00000260947.8:c.884A>G	ENSP00000260947.4:p.Asn295Ser
ENST00000421162.1:c.215+16071A>G	ENSP00000392245.1:n.215+16071A>G
ENST00000455743.5:c.*504A>G	ENSP00000412186.1:n.*504A>G
ENST00000471787.1:n.779A>G
ENST00000613192.1:c.73+28422A>G	ENSP00000483275.1:n.73+28422A>G
ENST00000613374.4:c.158+28422A>G	ENSP00000484464.1:n.158+28422A>G
ENST00000613706.4:c.215+16071A>G	ENSP00000484976.1:n.215+16071A>G
ENST00000617164.4:c.827A>G	ENSP00000480470.1:p.Asn276Ser
ENST00000619009.4:c.364+11307A>G	ENSP00000482293.1:n.364+11307A>G
ENST00000620057.4:c.364+11307A>G	ENSP00000481988.1:n.364+11307A>G
NM_000465.3:c.884A>G	NP_000456.2:p.Asn295Ser
NM_001282543.1:c.827A>G	NP_001269472.1:p.Asn276Ser
NM_001282545.1:c.215+16071A>G	NP_001269474.1:n.215+16071A>G
NM_001282548.1:c.158+28422A>G	NP_001269477.1:n.158+28422A>G
NM_001282549.1:c.364+11307A>G	NP_001269478.1:n.364+11307A>G
NR_104212.1:n.877A>G
NR_104215.1:n.820A>G
NR_104216.1:n.506+11307A>G
XM_011511567.1:c.830A>G	XP_011509869.1:p.Asn277Ser
XM_011511568.1:c.884A>G	XP_011509870.1:p.Asn295Ser
XM_017004613.1:c.983A>G	XP_016860102.1:p.Asn328Ser
XM_017004614.1:c.983A>G	XP_016860103.1:p.Asn328Ser
XR_002959322.1:n.1074A>G
NM_000465.4:c.884A>G MANE Select	NP_000456.2:p.Asn295Ser
NM_001282543.2:c.827A>G	NP_001269472.1:p.Asn276Ser
NM_001282545.2:c.215+16071A>G	NP_001269474.1:n.215+16071A>G
NM_001282548.2:c.158+28422A>G	NP_001269477.1:n.158+28422A>G
NM_001282549.2:c.364+11307A>G	NP_001269478.1:n.364+11307A>G
NR_104212.2:n.849A>G
NR_104215.2:n.792A>G
NR_104216.2:n.478+11307A>G