Canonical Allele Identifier: CA350449946

Gene: BARD1

Linked Data

• ClinVar Variation Id: 820999
• ClinVar RCV Id: RCV001015010 ; RCV002298826
• dbSNP Id: rs863224672
• MyVariant Identifiers: chr2:g.215593462C>T (hg19) ; chr2:g.214728738C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728738C>T , CM000664.2:g.214728738C>T	GRCh38
NC_000002.11:g.215593462C>T , CM000664.1:g.215593462C>T	GRCh37
NC_000002.10:g.215301707C>T	NCBI36
NG_012047.2:g.85967G>A
NG_012047.3:g.85974G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2272G>A MANE Select	ENSP00000260947.4:p.Ala758Thr
ENST00000421162.2:c.919G>A	ENSP00000392245.2:p.Ala307Thr
ENST00000613192.2:c.*335G>A	ENSP00000483275.2:n.*335G>A
ENST00000613374.5:c.862G>A	ENSP00000484464.1:p.Ala288Thr
ENST00000613706.5:c.1864G>A	ENSP00000484976.2:p.Ala622Thr
ENST00000617164.5:c.2215G>A	ENSP00000480470.1:p.Ala739Thr
ENST00000619009.5:c.733G>A	ENSP00000482293.1:p.Ala245Thr
ENST00000650978.1:c.3647G>A
ENST00000260947.8:c.2272G>A	ENSP00000260947.4:p.Ala758Thr
ENST00000432456.5:c.415G>A
ENST00000455743.5:c.*1892G>A	ENSP00000412186.1:n.*1892G>A
ENST00000471590.5:n.607G>A
ENST00000613192.1:c.442G>A	ENSP00000483275.1:p.Ala148Thr
ENST00000613374.4:c.862G>A	ENSP00000484464.1:p.Ala288Thr
ENST00000613706.4:c.919G>A	ENSP00000484976.1:p.Ala307Thr
ENST00000617164.4:c.2215G>A	ENSP00000480470.1:p.Ala739Thr
ENST00000619009.4:c.733G>A	ENSP00000482293.1:p.Ala245Thr
ENST00000620057.4:c.*938G>A	ENSP00000481988.1:n.*938G>A
NM_000465.3:c.2272G>A	NP_000456.2:p.Ala758Thr
NM_001282543.1:c.2215G>A	NP_001269472.1:p.Ala739Thr
NM_001282545.1:c.919G>A	NP_001269474.1:p.Ala307Thr
NM_001282548.1:c.862G>A	NP_001269477.1:p.Ala288Thr
NM_001282549.1:c.733G>A	NP_001269478.1:p.Ala245Thr
NR_104212.1:n.2265G>A
NR_104215.1:n.2208G>A
NR_104216.1:n.1464G>A
XM_011511567.1:c.2218G>A	XP_011509869.1:p.Ala740Thr
XM_017004613.1:c.2371G>A	XP_016860102.1:p.Ala791Thr
XR_002959322.1:n.2638G>A
NM_000465.4:c.2272G>A MANE Select	NP_000456.2:p.Ala758Thr
NM_001282543.2:c.2215G>A	NP_001269472.1:p.Ala739Thr
NM_001282545.2:c.919G>A	NP_001269474.1:p.Ala307Thr
NM_001282548.2:c.862G>A	NP_001269477.1:p.Ala288Thr
NM_001282549.2:c.733G>A	NP_001269478.1:p.Ala245Thr
NR_104212.2:n.2237G>A
NR_104215.2:n.2180G>A
NR_104216.2:n.1436G>A