Canonical Allele Identifier: CA336740

Gene: BARD1

Linked Data

• ClinVar Variation Id: 216442
• ClinVar RCV Id: RCV000196822 ; RCV003165468
• dbSNP Id: rs863224672
• gnomAD v4: 2-214728738-C-G
• MyVariant Identifiers: chr2:g.215593462C>G (hg19) ; chr2:g.214728738C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2272G>C MANE Select	ENSP00000260947.4:p.Ala758Pro
ENST00000421162.2:c.919G>C	ENSP00000392245.2:p.Ala307Pro
ENST00000613192.2:c.*335G>C	ENSP00000483275.2:n.*335G>C
ENST00000613374.5:c.862G>C	ENSP00000484464.1:p.Ala288Pro
ENST00000613706.5:c.1864G>C	ENSP00000484976.2:p.Ala622Pro
ENST00000617164.5:c.2215G>C	ENSP00000480470.1:p.Ala739Pro
ENST00000619009.5:c.733G>C	ENSP00000482293.1:p.Ala245Pro
ENST00000650978.1:c.3647G>C
ENST00000260947.8:c.2272G>C	ENSP00000260947.4:p.Ala758Pro
ENST00000432456.5:c.415G>C
ENST00000455743.5:c.*1892G>C	ENSP00000412186.1:n.*1892G>C
ENST00000471590.5:n.607G>C
ENST00000613192.1:c.442G>C	ENSP00000483275.1:p.Ala148Pro
ENST00000613374.4:c.862G>C	ENSP00000484464.1:p.Ala288Pro
ENST00000613706.4:c.919G>C	ENSP00000484976.1:p.Ala307Pro
ENST00000617164.4:c.2215G>C	ENSP00000480470.1:p.Ala739Pro
ENST00000619009.4:c.733G>C	ENSP00000482293.1:p.Ala245Pro
ENST00000620057.4:c.*938G>C	ENSP00000481988.1:n.*938G>C
NM_000465.3:c.2272G>C	NP_000456.2:p.Ala758Pro
NM_001282543.1:c.2215G>C	NP_001269472.1:p.Ala739Pro
NM_001282545.1:c.919G>C	NP_001269474.1:p.Ala307Pro
NM_001282548.1:c.862G>C	NP_001269477.1:p.Ala288Pro
NM_001282549.1:c.733G>C	NP_001269478.1:p.Ala245Pro
NR_104212.1:n.2265G>C
NR_104215.1:n.2208G>C
NR_104216.1:n.1464G>C
XM_011511567.1:c.2218G>C	XP_011509869.1:p.Ala740Pro
XM_017004613.1:c.2371G>C	XP_016860102.1:p.Ala791Pro
XR_002959322.1:n.2638G>C
NM_000465.4:c.2272G>C MANE Select	NP_000456.2:p.Ala758Pro
NM_001282543.2:c.2215G>C	NP_001269472.1:p.Ala739Pro
NM_001282545.2:c.919G>C	NP_001269474.1:p.Ala307Pro
NM_001282548.2:c.862G>C	NP_001269477.1:p.Ala288Pro
NM_001282549.2:c.733G>C	NP_001269478.1:p.Ala245Pro
NR_104212.2:n.2237G>C
NR_104215.2:n.2180G>C
NR_104216.2:n.1436G>C