Canonical Allele Identifier: CA350455704

Gene: BARD1

Linked Data

• gnomAD v4: 2-214781083-C-A
• MyVariant Identifiers: chr2:g.215645807C>A (hg19) ; chr2:g.214781083C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781083C>A , CM000664.2:g.214781083C>A	GRCh38
NC_000002.11:g.215645807C>A , CM000664.1:g.215645807C>A	GRCh37
NC_000002.10:g.215354052C>A	NCBI36
NG_012047.2:g.33622G>T
NG_012047.3:g.33629G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.791G>T MANE Select	ENSP00000260947.4:p.Gly264Val
ENST00000421162.2:c.215+15978G>T	ENSP00000392245.2:n.215+15978G>T
ENST00000613192.2:c.158+28329G>T	ENSP00000483275.2:n.158+28329G>T
ENST00000613374.5:c.158+28329G>T	ENSP00000484464.1:n.158+28329G>T
ENST00000613706.5:c.791G>T	ENSP00000484976.2:p.Gly264Val
ENST00000617164.5:c.734G>T	ENSP00000480470.1:p.Gly245Val
ENST00000619009.5:c.364+11214G>T	ENSP00000482293.1:n.364+11214G>T
ENST00000650978.1:c.633G>T
ENST00000260947.8:c.791G>T	ENSP00000260947.4:p.Gly264Val
ENST00000421162.1:c.215+15978G>T	ENSP00000392245.1:n.215+15978G>T
ENST00000455743.5:c.*411G>T	ENSP00000412186.1:n.*411G>T
ENST00000471787.1:n.686G>T
ENST00000613192.1:c.73+28329G>T	ENSP00000483275.1:n.73+28329G>T
ENST00000613374.4:c.158+28329G>T	ENSP00000484464.1:n.158+28329G>T
ENST00000613706.4:c.215+15978G>T	ENSP00000484976.1:n.215+15978G>T
ENST00000617164.4:c.734G>T	ENSP00000480470.1:p.Gly245Val
ENST00000619009.4:c.364+11214G>T	ENSP00000482293.1:n.364+11214G>T
ENST00000620057.4:c.364+11214G>T	ENSP00000481988.1:n.364+11214G>T
NM_000465.3:c.791G>T	NP_000456.2:p.Gly264Val
NM_001282543.1:c.734G>T	NP_001269472.1:p.Gly245Val
NM_001282545.1:c.215+15978G>T	NP_001269474.1:n.215+15978G>T
NM_001282548.1:c.158+28329G>T	NP_001269477.1:n.158+28329G>T
NM_001282549.1:c.364+11214G>T	NP_001269478.1:n.364+11214G>T
NR_104212.1:n.784G>T
NR_104215.1:n.727G>T
NR_104216.1:n.506+11214G>T
XM_011511567.1:c.737G>T	XP_011509869.1:p.Gly246Val
XM_011511568.1:c.791G>T	XP_011509870.1:p.Gly264Val
XM_017004613.1:c.890G>T	XP_016860102.1:p.Gly297Val
XM_017004614.1:c.890G>T	XP_016860103.1:p.Gly297Val
XR_002959322.1:n.981G>T
NM_000465.4:c.791G>T MANE Select	NP_000456.2:p.Gly264Val
NM_001282543.2:c.734G>T	NP_001269472.1:p.Gly245Val
NM_001282545.2:c.215+15978G>T	NP_001269474.1:n.215+15978G>T
NM_001282548.2:c.158+28329G>T	NP_001269477.1:n.158+28329G>T
NM_001282549.2:c.364+11214G>T	NP_001269478.1:n.364+11214G>T
NR_104212.2:n.756G>T
NR_104215.2:n.699G>T
NR_104216.2:n.478+11214G>T