Canonical Allele Identifier: CA539837273

Gene: BARD1

Linked Data

• ClinVar Variation Id: 460740
• ClinVar RCV Id: RCV000531970 ; RCV001014816
• dbSNP Id: rs1259296823
• gnomAD v2: 2-215593504-T-TA
• gnomAD v4: 2-214728780-T-TA
• MyVariant Identifiers: chr2:g.215593505dup (hg19) ; chr2:g.215593504_215593505insA (hg19) ; chr2:g.214728781dup (hg38) ; chr2:g.214728780_214728781insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728781dup , CM000664.2:g.214728781dup	GRCh38
NC_000002.11:g.215593505dup , CM000664.1:g.215593505dup	GRCh37
NC_000002.10:g.215301750dup	NCBI36
NG_012047.2:g.85924dup
NG_012047.3:g.85931dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2229dup MANE Select	ENSP00000260947.4:p.Asn744Ter
ENST00000421162.2:c.876dup	ENSP00000392245.2:p.Asn293Ter
ENST00000613192.2:c.*292dup	ENSP00000483275.2:n.*292dup
ENST00000613374.5:c.819dup	ENSP00000484464.1:p.Asn274Ter
ENST00000613706.5:c.1821dup	ENSP00000484976.2:p.Asn608Ter
ENST00000617164.5:c.2172dup	ENSP00000480470.1:p.Asn725Ter
ENST00000619009.5:c.690dup	ENSP00000482293.1:p.Asn231Ter
ENST00000650978.1:c.3604dup
ENST00000260947.8:c.2229dup	ENSP00000260947.4:p.Asn744Ter
ENST00000432456.5:c.372dup
ENST00000455743.5:c.*1849dup	ENSP00000412186.1:n.*1849dup
ENST00000471590.5:n.564dup
ENST00000613192.1:c.399dup	ENSP00000483275.1:p.Asn134Ter
ENST00000613374.4:c.819dup	ENSP00000484464.1:p.Asn274Ter
ENST00000613706.4:c.876dup	ENSP00000484976.1:p.Asn293Ter
ENST00000617164.4:c.2172dup	ENSP00000480470.1:p.Asn725Ter
ENST00000619009.4:c.690dup	ENSP00000482293.1:p.Asn231Ter
ENST00000620057.4:c.*895dup	ENSP00000481988.1:n.*895dup
NM_000465.3:c.2229dup	NP_000456.2:p.Asn744Ter
NM_001282543.1:c.2172dup	NP_001269472.1:p.Asn725Ter
NM_001282545.1:c.876dup	NP_001269474.1:p.Asn293Ter
NM_001282548.1:c.819dup	NP_001269477.1:p.Asn274Ter
NM_001282549.1:c.690dup	NP_001269478.1:p.Asn231Ter
NR_104212.1:n.2222dup
NR_104215.1:n.2165dup
NR_104216.1:n.1421dup
XM_011511567.1:c.2175dup	XP_011509869.1:p.Asn726Ter
XM_017004613.1:c.2328dup	XP_016860102.1:p.Asn777Ter
XR_002959322.1:n.2595dup
NM_000465.4:c.2229dup MANE Select	NP_000456.2:p.Asn744Ter
NM_001282543.2:c.2172dup	NP_001269472.1:p.Asn725Ter
NM_001282545.2:c.876dup	NP_001269474.1:p.Asn293Ter
NM_001282548.2:c.819dup	NP_001269477.1:p.Asn274Ter
NM_001282549.2:c.690dup	NP_001269478.1:p.Asn231Ter
NR_104212.2:n.2194dup
NR_104215.2:n.2137dup
NR_104216.2:n.1393dup