Canonical Allele Identifier: CA350452227

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1046090
• ClinVar RCV Id: RCV001350599
• dbSNP Id: rs1693040542
• MyVariant Identifiers: chr2:g.215609849T>A (hg19) ; chr2:g.214745125T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745125T>A , CM000664.2:g.214745125T>A	GRCh38
NC_000002.11:g.215609849T>A , CM000664.1:g.215609849T>A	GRCh37
NC_000002.10:g.215318094T>A	NCBI36
NG_012047.2:g.69580A>T
NG_012047.3:g.69587A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1845A>T MANE Select	ENSP00000260947.4:p.Gln615His
ENST00000421162.2:c.492A>T	ENSP00000392245.2:p.Gln164His
ENST00000613192.2:c.159-14617A>T	ENSP00000483275.2:n.159-14617A>T
ENST00000613374.5:c.435A>T	ENSP00000484464.1:p.Gln145His
ENST00000613706.5:c.1437A>T	ENSP00000484976.2:p.Gln479His
ENST00000617164.5:c.1788A>T	ENSP00000480470.1:p.Gln596His
ENST00000619009.5:c.365-14617A>T	ENSP00000482293.1:n.365-14617A>T
ENST00000650978.1:c.3220A>T
ENST00000260947.8:c.1845A>T	ENSP00000260947.4:p.Gln615His
ENST00000421162.1:c.492A>T	ENSP00000392245.1:p.Gln164His
ENST00000455743.5:c.*1465A>T	ENSP00000412186.1:n.*1465A>T
ENST00000613192.1:c.74-14617A>T	ENSP00000483275.1:n.74-14617A>T
ENST00000613374.4:c.435A>T	ENSP00000484464.1:p.Gln145His
ENST00000613706.4:c.492A>T	ENSP00000484976.1:p.Gln164His
ENST00000617164.4:c.1788A>T	ENSP00000480470.1:p.Gln596His
ENST00000619009.4:c.365-14617A>T	ENSP00000482293.1:n.365-14617A>T
ENST00000620057.4:c.*511A>T	ENSP00000481988.1:n.*511A>T
NM_000465.3:c.1845A>T	NP_000456.2:p.Gln615His
NM_001282543.1:c.1788A>T	NP_001269472.1:p.Gln596His
NM_001282545.1:c.492A>T	NP_001269474.1:p.Gln164His
NM_001282548.1:c.435A>T	NP_001269477.1:p.Gln145His
NM_001282549.1:c.365-14617A>T	NP_001269478.1:n.365-14617A>T
NR_104212.1:n.1838A>T
NR_104215.1:n.1781A>T
NR_104216.1:n.1037A>T
XM_011511567.1:c.1791A>T	XP_011509869.1:p.Gln597His
XM_011511568.1:c.1845A>T	XP_011509870.1:p.Gln615His
XM_017004613.1:c.1944A>T	XP_016860102.1:p.Gln648His
XM_017004614.1:c.1944A>T	XP_016860103.1:p.Gln648His
XR_002959322.1:n.2035A>T
NM_000465.4:c.1845A>T MANE Select	NP_000456.2:p.Gln615His
NM_001282543.2:c.1788A>T	NP_001269472.1:p.Gln596His
NM_001282545.2:c.492A>T	NP_001269474.1:p.Gln164His
NM_001282548.2:c.435A>T	NP_001269477.1:p.Gln145His
NM_001282549.2:c.365-14617A>T	NP_001269478.1:n.365-14617A>T
NR_104212.2:n.1810A>T
NR_104215.2:n.1753A>T
NR_104216.2:n.1009A>T