Canonical Allele Identifier: CA350455189

Gene: BARD1

Linked Data

• ClinVar Variation Id: 479132
• ClinVar RCV Id: RCV000563622 ; RCV003500549
• dbSNP Id: rs1553622382
• MyVariant Identifiers: chr2:g.215645729T>C (hg19) ; chr2:g.214781005T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781005T>C , CM000664.2:g.214781005T>C	GRCh38
NC_000002.11:g.215645729T>C , CM000664.1:g.215645729T>C	GRCh37
NC_000002.10:g.215353974T>C	NCBI36
NG_012047.2:g.33700A>G
NG_012047.3:g.33707A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.869A>G MANE Select	ENSP00000260947.4:p.Asp290Gly
ENST00000421162.2:c.215+16056A>G	ENSP00000392245.2:n.215+16056A>G
ENST00000613192.2:c.158+28407A>G	ENSP00000483275.2:n.158+28407A>G
ENST00000613374.5:c.158+28407A>G	ENSP00000484464.1:n.158+28407A>G
ENST00000613706.5:c.869A>G	ENSP00000484976.2:p.Asp290Gly
ENST00000617164.5:c.812A>G	ENSP00000480470.1:p.Asp271Gly
ENST00000619009.5:c.364+11292A>G	ENSP00000482293.1:n.364+11292A>G
ENST00000650978.1:c.711A>G
ENST00000260947.8:c.869A>G	ENSP00000260947.4:p.Asp290Gly
ENST00000421162.1:c.215+16056A>G	ENSP00000392245.1:n.215+16056A>G
ENST00000455743.5:c.*489A>G	ENSP00000412186.1:n.*489A>G
ENST00000471787.1:n.764A>G
ENST00000613192.1:c.73+28407A>G	ENSP00000483275.1:n.73+28407A>G
ENST00000613374.4:c.158+28407A>G	ENSP00000484464.1:n.158+28407A>G
ENST00000613706.4:c.215+16056A>G	ENSP00000484976.1:n.215+16056A>G
ENST00000617164.4:c.812A>G	ENSP00000480470.1:p.Asp271Gly
ENST00000619009.4:c.364+11292A>G	ENSP00000482293.1:n.364+11292A>G
ENST00000620057.4:c.364+11292A>G	ENSP00000481988.1:n.364+11292A>G
NM_000465.3:c.869A>G	NP_000456.2:p.Asp290Gly
NM_001282543.1:c.812A>G	NP_001269472.1:p.Asp271Gly
NM_001282545.1:c.215+16056A>G	NP_001269474.1:n.215+16056A>G
NM_001282548.1:c.158+28407A>G	NP_001269477.1:n.158+28407A>G
NM_001282549.1:c.364+11292A>G	NP_001269478.1:n.364+11292A>G
NR_104212.1:n.862A>G
NR_104215.1:n.805A>G
NR_104216.1:n.506+11292A>G
XM_011511567.1:c.815A>G	XP_011509869.1:p.Asp272Gly
XM_011511568.1:c.869A>G	XP_011509870.1:p.Asp290Gly
XM_017004613.1:c.968A>G	XP_016860102.1:p.Asp323Gly
XM_017004614.1:c.968A>G	XP_016860103.1:p.Asp323Gly
XR_002959322.1:n.1059A>G
NM_000465.4:c.869A>G MANE Select	NP_000456.2:p.Asp290Gly
NM_001282543.2:c.812A>G	NP_001269472.1:p.Asp271Gly
NM_001282545.2:c.215+16056A>G	NP_001269474.1:n.215+16056A>G
NM_001282548.2:c.158+28407A>G	NP_001269477.1:n.158+28407A>G
NM_001282549.2:c.364+11292A>G	NP_001269478.1:n.364+11292A>G
NR_104212.2:n.834A>G
NR_104215.2:n.777A>G
NR_104216.2:n.478+11292A>G