Canonical Allele Identifier: CA350452623

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215610470T>C (hg19) ; chr2:g.214745746T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745746T>C , CM000664.2:g.214745746T>C	GRCh38
NC_000002.11:g.215610470T>C , CM000664.1:g.215610470T>C	GRCh37
NC_000002.10:g.215318715T>C	NCBI36
NG_012047.2:g.68959A>G
NG_012047.3:g.68966A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1786A>G MANE Select	ENSP00000260947.4:p.Lys596Glu
ENST00000421162.2:c.433A>G	ENSP00000392245.2:p.Lys145Glu
ENST00000613192.2:c.159-15238A>G	ENSP00000483275.2:n.159-15238A>G
ENST00000613374.5:c.376A>G	ENSP00000484464.1:p.Lys126Glu
ENST00000613706.5:c.1378A>G	ENSP00000484976.2:p.Lys460Glu
ENST00000617164.5:c.1729A>G	ENSP00000480470.1:p.Lys577Glu
ENST00000619009.5:c.365-15238A>G	ENSP00000482293.1:n.365-15238A>G
ENST00000650978.1:c.3161A>G
ENST00000260947.8:c.1786A>G	ENSP00000260947.4:p.Lys596Glu
ENST00000421162.1:c.433A>G	ENSP00000392245.1:p.Lys145Glu
ENST00000455743.5:c.*1406A>G	ENSP00000412186.1:n.*1406A>G
ENST00000465841.1:n.141A>G
ENST00000613192.1:c.74-15238A>G	ENSP00000483275.1:n.74-15238A>G
ENST00000613374.4:c.376A>G	ENSP00000484464.1:p.Lys126Glu
ENST00000613706.4:c.433A>G	ENSP00000484976.1:p.Lys145Glu
ENST00000617164.4:c.1729A>G	ENSP00000480470.1:p.Lys577Glu
ENST00000619009.4:c.365-15238A>G	ENSP00000482293.1:n.365-15238A>G
ENST00000620057.4:c.*452A>G	ENSP00000481988.1:n.*452A>G
NM_000465.3:c.1786A>G	NP_000456.2:p.Lys596Glu
NM_001282543.1:c.1729A>G	NP_001269472.1:p.Lys577Glu
NM_001282545.1:c.433A>G	NP_001269474.1:p.Lys145Glu
NM_001282548.1:c.376A>G	NP_001269477.1:p.Lys126Glu
NM_001282549.1:c.365-15238A>G	NP_001269478.1:n.365-15238A>G
NR_104212.1:n.1779A>G
NR_104215.1:n.1722A>G
NR_104216.1:n.978A>G
XM_011511567.1:c.1732A>G	XP_011509869.1:p.Lys578Glu
XM_011511568.1:c.1786A>G	XP_011509870.1:p.Lys596Glu
XM_017004613.1:c.1885A>G	XP_016860102.1:p.Lys629Glu
XM_017004614.1:c.1885A>G	XP_016860103.1:p.Lys629Glu
XR_002959322.1:n.1976A>G
NM_000465.4:c.1786A>G MANE Select	NP_000456.2:p.Lys596Glu
NM_001282543.2:c.1729A>G	NP_001269472.1:p.Lys577Glu
NM_001282545.2:c.433A>G	NP_001269474.1:p.Lys145Glu
NM_001282548.2:c.376A>G	NP_001269477.1:p.Lys126Glu
NM_001282549.2:c.365-15238A>G	NP_001269478.1:n.365-15238A>G
NR_104212.2:n.1751A>G
NR_104215.2:n.1694A>G
NR_104216.2:n.950A>G