Canonical Allele Identifier: CA350449807

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1521461
• ClinVar RCV Id: RCV002027886 ; RCV002259157
• dbSNP Id: rs1434753563
• MyVariant Identifiers: chr2:g.215593435C>T (hg19) ; chr2:g.214728711C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728711C>T , CM000664.2:g.214728711C>T	GRCh38
NC_000002.11:g.215593435C>T , CM000664.1:g.215593435C>T	GRCh37
NC_000002.10:g.215301680C>T	NCBI36
NG_012047.2:g.85994G>A
NG_012047.3:g.86001G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2299G>A MANE Select	ENSP00000260947.4:p.Val767Met
ENST00000421162.2:c.946G>A	ENSP00000392245.2:p.Val316Met
ENST00000613192.2:c.*362G>A	ENSP00000483275.2:n.*362G>A
ENST00000613374.5:c.889G>A	ENSP00000484464.1:p.Val297Met
ENST00000613706.5:c.1891G>A	ENSP00000484976.2:p.Val631Met
ENST00000617164.5:c.2242G>A	ENSP00000480470.1:p.Val748Met
ENST00000619009.5:c.760G>A	ENSP00000482293.1:p.Val254Met
ENST00000650978.1:c.3674G>A
ENST00000260947.8:c.2299G>A	ENSP00000260947.4:p.Val767Met
ENST00000432456.5:c.442G>A
ENST00000455743.5:c.*1919G>A	ENSP00000412186.1:n.*1919G>A
ENST00000471590.5:n.634G>A
ENST00000613192.1:c.469G>A	ENSP00000483275.1:p.Val157Met
ENST00000613374.4:c.889G>A	ENSP00000484464.1:p.Val297Met
ENST00000613706.4:c.946G>A	ENSP00000484976.1:p.Val316Met
ENST00000617164.4:c.2242G>A	ENSP00000480470.1:p.Val748Met
ENST00000619009.4:c.760G>A	ENSP00000482293.1:p.Val254Met
ENST00000620057.4:c.*965G>A	ENSP00000481988.1:n.*965G>A
NM_000465.3:c.2299G>A	NP_000456.2:p.Val767Met
NM_001282543.1:c.2242G>A	NP_001269472.1:p.Val748Met
NM_001282545.1:c.946G>A	NP_001269474.1:p.Val316Met
NM_001282548.1:c.889G>A	NP_001269477.1:p.Val297Met
NM_001282549.1:c.760G>A	NP_001269478.1:p.Val254Met
NR_104212.1:n.2292G>A
NR_104215.1:n.2235G>A
NR_104216.1:n.1491G>A
XM_011511567.1:c.2245G>A	XP_011509869.1:p.Val749Met
XM_017004613.1:c.2398G>A	XP_016860102.1:p.Val800Met
XR_002959322.1:n.2665G>A
NM_000465.4:c.2299G>A MANE Select	NP_000456.2:p.Val767Met
NM_001282543.2:c.2242G>A	NP_001269472.1:p.Val748Met
NM_001282545.2:c.946G>A	NP_001269474.1:p.Val316Met
NM_001282548.2:c.889G>A	NP_001269477.1:p.Val297Met
NM_001282549.2:c.760G>A	NP_001269478.1:p.Val254Met
NR_104212.2:n.2264G>A
NR_104215.2:n.2207G>A
NR_104216.2:n.1463G>A