Canonical Allele Identifier: CA10577760

Gene: BARD1

Linked Data

• ClinVar Variation Id: 231229
• ClinVar RCV Id: RCV000216165 ; RCV002518298
• dbSNP Id: rs876659038
• MyVariant Identifiers: chr2:g.215593471C>T (hg19) ; chr2:g.214728747C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728747C>T , CM000664.2:g.214728747C>T	GRCh38
NC_000002.11:g.215593471C>T , CM000664.1:g.215593471C>T	GRCh37
NC_000002.10:g.215301716C>T	NCBI36
NG_012047.2:g.85958G>A
NG_012047.3:g.85965G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2263G>A MANE Select	ENSP00000260947.4:p.Val755Ile
ENST00000421162.2:c.910G>A	ENSP00000392245.2:p.Val304Ile
ENST00000613192.2:c.*326G>A	ENSP00000483275.2:n.*326G>A
ENST00000613374.5:c.853G>A	ENSP00000484464.1:p.Val285Ile
ENST00000613706.5:c.1855G>A	ENSP00000484976.2:p.Val619Ile
ENST00000617164.5:c.2206G>A	ENSP00000480470.1:p.Val736Ile
ENST00000619009.5:c.724G>A	ENSP00000482293.1:p.Val242Ile
ENST00000650978.1:c.3638G>A
ENST00000260947.8:c.2263G>A	ENSP00000260947.4:p.Val755Ile
ENST00000432456.5:c.406G>A
ENST00000455743.5:c.*1883G>A	ENSP00000412186.1:n.*1883G>A
ENST00000471590.5:n.598G>A
ENST00000613192.1:c.433G>A	ENSP00000483275.1:p.Val145Ile
ENST00000613374.4:c.853G>A	ENSP00000484464.1:p.Val285Ile
ENST00000613706.4:c.910G>A	ENSP00000484976.1:p.Val304Ile
ENST00000617164.4:c.2206G>A	ENSP00000480470.1:p.Val736Ile
ENST00000619009.4:c.724G>A	ENSP00000482293.1:p.Val242Ile
ENST00000620057.4:c.*929G>A	ENSP00000481988.1:n.*929G>A
NM_000465.3:c.2263G>A	NP_000456.2:p.Val755Ile
NM_001282543.1:c.2206G>A	NP_001269472.1:p.Val736Ile
NM_001282545.1:c.910G>A	NP_001269474.1:p.Val304Ile
NM_001282548.1:c.853G>A	NP_001269477.1:p.Val285Ile
NM_001282549.1:c.724G>A	NP_001269478.1:p.Val242Ile
NR_104212.1:n.2256G>A
NR_104215.1:n.2199G>A
NR_104216.1:n.1455G>A
XM_011511567.1:c.2209G>A	XP_011509869.1:p.Val737Ile
XM_017004613.1:c.2362G>A	XP_016860102.1:p.Val788Ile
XR_002959322.1:n.2629G>A
NM_000465.4:c.2263G>A MANE Select	NP_000456.2:p.Val755Ile
NM_001282543.2:c.2206G>A	NP_001269472.1:p.Val736Ile
NM_001282545.2:c.910G>A	NP_001269474.1:p.Val304Ile
NM_001282548.2:c.853G>A	NP_001269477.1:p.Val285Ile
NM_001282549.2:c.724G>A	NP_001269478.1:p.Val242Ile
NR_104212.2:n.2228G>A
NR_104215.2:n.2171G>A
NR_104216.2:n.1427G>A