Canonical Allele Identifier: CA16610627

Gene: BARD1

Linked Data

• ClinVar Variation Id: 414129
• ClinVar RCV Id: RCV001431350 ; RCV002446871
• dbSNP Id: rs1060504197
• gnomAD v4: 2-214728703-G-A
• MyVariant Identifiers: chr2:g.215593427G>A (hg19) ; chr2:g.214728703G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728703G>A , CM000664.2:g.214728703G>A	GRCh38
NC_000002.11:g.215593427G>A , CM000664.1:g.215593427G>A	GRCh37
NC_000002.10:g.215301672G>A	NCBI36
NG_012047.2:g.86002C>T
NG_012047.3:g.86009C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2307C>T MANE Select	ENSP00000260947.4:p.Ser769=
ENST00000421162.2:c.954C>T	ENSP00000392245.2:p.Ser318=
ENST00000613192.2:c.*370C>T	ENSP00000483275.2:n.*370C>T
ENST00000613374.5:c.897C>T	ENSP00000484464.1:p.Ser299=
ENST00000613706.5:c.1899C>T	ENSP00000484976.2:p.Ser633=
ENST00000617164.5:c.2250C>T	ENSP00000480470.1:p.Ser750=
ENST00000619009.5:c.768C>T	ENSP00000482293.1:p.Ser256=
ENST00000650978.1:c.3682C>T
ENST00000260947.8:c.2307C>T	ENSP00000260947.4:p.Ser769=
ENST00000432456.5:c.450C>T
ENST00000471590.5:n.642C>T
ENST00000613192.1:c.477C>T	ENSP00000483275.1:p.Ser159=
ENST00000613374.4:c.897C>T	ENSP00000484464.1:p.Ser299=
ENST00000613706.4:c.954C>T	ENSP00000484976.1:p.Ser318=
ENST00000617164.4:c.2250C>T	ENSP00000480470.1:p.Ser750=
ENST00000619009.4:c.768C>T	ENSP00000482293.1:p.Ser256=
ENST00000620057.4:c.*973C>T	ENSP00000481988.1:n.*973C>T
NM_000465.3:c.2307C>T	NP_000456.2:p.Ser769=
NM_001282543.1:c.2250C>T	NP_001269472.1:p.Ser750=
NM_001282545.1:c.954C>T	NP_001269474.1:p.Ser318=
NM_001282548.1:c.897C>T	NP_001269477.1:p.Ser299=
NM_001282549.1:c.768C>T	NP_001269478.1:p.Ser256=
NR_104212.1:n.2300C>T
NR_104215.1:n.2243C>T
NR_104216.1:n.1499C>T
XM_011511567.1:c.2253C>T	XP_011509869.1:p.Ser751=
XM_017004613.1:c.2406C>T	XP_016860102.1:p.Ser802=
XR_002959322.1:n.2673C>T
NM_000465.4:c.2307C>T MANE Select	NP_000456.2:p.Ser769=
NM_001282543.2:c.2250C>T	NP_001269472.1:p.Ser750=
NM_001282545.2:c.954C>T	NP_001269474.1:p.Ser318=
NM_001282548.2:c.897C>T	NP_001269477.1:p.Ser299=
NM_001282549.2:c.768C>T	NP_001269478.1:p.Ser256=
NR_104212.2:n.2272C>T
NR_104215.2:n.2215C>T
NR_104216.2:n.1471C>T