Canonical Allele Identifier: CA350449802

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593434A>C (hg19) ; chr2:g.214728710A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728710A>C , CM000664.2:g.214728710A>C	GRCh38
NC_000002.11:g.215593434A>C , CM000664.1:g.215593434A>C	GRCh37
NC_000002.10:g.215301679A>C	NCBI36
NG_012047.2:g.85995T>G
NG_012047.3:g.86002T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2300T>G MANE Select	ENSP00000260947.4:p.Val767Gly
ENST00000421162.2:c.947T>G	ENSP00000392245.2:p.Val316Gly
ENST00000613192.2:c.*363T>G	ENSP00000483275.2:n.*363T>G
ENST00000613374.5:c.890T>G	ENSP00000484464.1:p.Val297Gly
ENST00000613706.5:c.1892T>G	ENSP00000484976.2:p.Val631Gly
ENST00000617164.5:c.2243T>G	ENSP00000480470.1:p.Val748Gly
ENST00000619009.5:c.761T>G	ENSP00000482293.1:p.Val254Gly
ENST00000650978.1:c.3675T>G
ENST00000260947.8:c.2300T>G	ENSP00000260947.4:p.Val767Gly
ENST00000432456.5:c.443T>G
ENST00000455743.5:c.*1920T>G	ENSP00000412186.1:n.*1920T>G
ENST00000471590.5:n.635T>G
ENST00000613192.1:c.470T>G	ENSP00000483275.1:p.Val157Gly
ENST00000613374.4:c.890T>G	ENSP00000484464.1:p.Val297Gly
ENST00000613706.4:c.947T>G	ENSP00000484976.1:p.Val316Gly
ENST00000617164.4:c.2243T>G	ENSP00000480470.1:p.Val748Gly
ENST00000619009.4:c.761T>G	ENSP00000482293.1:p.Val254Gly
ENST00000620057.4:c.*966T>G	ENSP00000481988.1:n.*966T>G
NM_000465.3:c.2300T>G	NP_000456.2:p.Val767Gly
NM_001282543.1:c.2243T>G	NP_001269472.1:p.Val748Gly
NM_001282545.1:c.947T>G	NP_001269474.1:p.Val316Gly
NM_001282548.1:c.890T>G	NP_001269477.1:p.Val297Gly
NM_001282549.1:c.761T>G	NP_001269478.1:p.Val254Gly
NR_104212.1:n.2293T>G
NR_104215.1:n.2236T>G
NR_104216.1:n.1492T>G
XM_011511567.1:c.2246T>G	XP_011509869.1:p.Val749Gly
XM_017004613.1:c.2399T>G	XP_016860102.1:p.Val800Gly
XR_002959322.1:n.2666T>G
NM_000465.4:c.2300T>G MANE Select	NP_000456.2:p.Val767Gly
NM_001282543.2:c.2243T>G	NP_001269472.1:p.Val748Gly
NM_001282545.2:c.947T>G	NP_001269474.1:p.Val316Gly
NM_001282548.2:c.890T>G	NP_001269477.1:p.Val297Gly
NM_001282549.2:c.761T>G	NP_001269478.1:p.Val254Gly
NR_104212.2:n.2265T>G
NR_104215.2:n.2208T>G
NR_104216.2:n.1464T>G