Canonical Allele Identifier: CA350449998

Gene: BARD1

Linked Data

• ClinVar Variation Id: 631053
• ClinVar RCV Id: RCV002535593
• dbSNP Id: rs1057520455
• gnomAD v4: 2-214728763-C-A
• MyVariant Identifiers: chr2:g.215593487C>A (hg19) ; chr2:g.214728763C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728763C>A , CM000664.2:g.214728763C>A	GRCh38
NC_000002.11:g.215593487C>A , CM000664.1:g.215593487C>A	GRCh37
NC_000002.10:g.215301732C>A	NCBI36
NG_012047.2:g.85942G>T
NG_012047.3:g.85949G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.2247G>T MANE Select	ENSP00000260947.4:p.Arg749Ser
ENST00000421162.2:c.894G>T	ENSP00000392245.2:p.Arg298Ser
ENST00000613192.2:c.*310G>T	ENSP00000483275.2:n.*310G>T
ENST00000613374.5:c.837G>T	ENSP00000484464.1:p.Arg279Ser
ENST00000613706.5:c.1839G>T	ENSP00000484976.2:p.Arg613Ser
ENST00000617164.5:c.2190G>T	ENSP00000480470.1:p.Arg730Ser
ENST00000619009.5:c.708G>T	ENSP00000482293.1:p.Arg236Ser
ENST00000650978.1:c.3622G>T
ENST00000260947.8:c.2247G>T	ENSP00000260947.4:p.Arg749Ser
ENST00000432456.5:c.390G>T
ENST00000455743.5:c.*1867G>T	ENSP00000412186.1:n.*1867G>T
ENST00000471590.5:n.582G>T
ENST00000613192.1:c.417G>T	ENSP00000483275.1:p.Arg139Ser
ENST00000613374.4:c.837G>T	ENSP00000484464.1:p.Arg279Ser
ENST00000613706.4:c.894G>T	ENSP00000484976.1:p.Arg298Ser
ENST00000617164.4:c.2190G>T	ENSP00000480470.1:p.Arg730Ser
ENST00000619009.4:c.708G>T	ENSP00000482293.1:p.Arg236Ser
ENST00000620057.4:c.*913G>T	ENSP00000481988.1:n.*913G>T
NM_000465.3:c.2247G>T	NP_000456.2:p.Arg749Ser
NM_001282543.1:c.2190G>T	NP_001269472.1:p.Arg730Ser
NM_001282545.1:c.894G>T	NP_001269474.1:p.Arg298Ser
NM_001282548.1:c.837G>T	NP_001269477.1:p.Arg279Ser
NM_001282549.1:c.708G>T	NP_001269478.1:p.Arg236Ser
NR_104212.1:n.2240G>T
NR_104215.1:n.2183G>T
NR_104216.1:n.1439G>T
XM_011511567.1:c.2193G>T	XP_011509869.1:p.Arg731Ser
XM_017004613.1:c.2346G>T	XP_016860102.1:p.Arg782Ser
XR_002959322.1:n.2613G>T
NM_000465.4:c.2247G>T MANE Select	NP_000456.2:p.Arg749Ser
NM_001282543.2:c.2190G>T	NP_001269472.1:p.Arg730Ser
NM_001282545.2:c.894G>T	NP_001269474.1:p.Arg298Ser
NM_001282548.2:c.837G>T	NP_001269477.1:p.Arg279Ser
NM_001282549.2:c.708G>T	NP_001269478.1:p.Arg236Ser
NR_104212.2:n.2212G>T
NR_104215.2:n.2155G>T
NR_104216.2:n.1411G>T