Canonical Allele Identifier: CA431145857

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215610474A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745750A>T , CM000664.2:g.214745750A>T	GRCh38
NC_000002.11:g.215610474A>T , CM000664.1:g.215610474A>T	GRCh37
NC_000002.10:g.215318719A>T	NCBI36
NG_012047.2:g.68955T>A
NG_012047.3:g.68962T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1782T>A MANE Select	ENSP00000260947.4:p.Ala594=
ENST00000421162.2:c.429T>A	ENSP00000392245.2:p.Ala143=
ENST00000613192.2:c.159-15242T>A	ENSP00000483275.2:n.159-15242T>A
ENST00000613374.5:c.372T>A	ENSP00000484464.1:p.Ala124=
ENST00000613706.5:c.1374T>A	ENSP00000484976.2:p.Ala458=
ENST00000617164.5:c.1725T>A	ENSP00000480470.1:p.Ala575=
ENST00000619009.5:c.365-15242T>A	ENSP00000482293.1:n.365-15242T>A
ENST00000650978.1:c.3157T>A
ENST00000260947.8:c.1782T>A	ENSP00000260947.4:p.Ala594=
ENST00000421162.1:c.429T>A	ENSP00000392245.1:p.Ala143=
ENST00000455743.5:c.*1402T>A	ENSP00000412186.1:n.*1402T>A
ENST00000465841.1:n.137T>A
ENST00000613192.1:c.74-15242T>A	ENSP00000483275.1:n.74-15242T>A
ENST00000613374.4:c.372T>A	ENSP00000484464.1:p.Ala124=
ENST00000613706.4:c.429T>A	ENSP00000484976.1:p.Ala143=
ENST00000617164.4:c.1725T>A	ENSP00000480470.1:p.Ala575=
ENST00000619009.4:c.365-15242T>A	ENSP00000482293.1:n.365-15242T>A
ENST00000620057.4:c.*448T>A	ENSP00000481988.1:n.*448T>A
NM_000465.3:c.1782T>A	NP_000456.2:p.Ala594=
NM_001282543.1:c.1725T>A	NP_001269472.1:p.Ala575=
NM_001282545.1:c.429T>A	NP_001269474.1:p.Ala143=
NM_001282548.1:c.372T>A	NP_001269477.1:p.Ala124=
NM_001282549.1:c.365-15242T>A	NP_001269478.1:n.365-15242T>A
NR_104212.1:n.1775T>A
NR_104215.1:n.1718T>A
NR_104216.1:n.974T>A
XM_011511567.1:c.1728T>A	XP_011509869.1:p.Ala576=
XM_011511568.1:c.1782T>A	XP_011509870.1:p.Ala594=
XM_017004613.1:c.1881T>A	XP_016860102.1:p.Ala627=
XM_017004614.1:c.1881T>A	XP_016860103.1:p.Ala627=
XR_002959322.1:n.1972T>A
NM_000465.4:c.1782T>A MANE Select	NP_000456.2:p.Ala594=
NM_001282543.2:c.1725T>A	NP_001269472.1:p.Ala575=
NM_001282545.2:c.429T>A	NP_001269474.1:p.Ala143=
NM_001282548.2:c.372T>A	NP_001269477.1:p.Ala124=
NM_001282549.2:c.365-15242T>A	NP_001269478.1:n.365-15242T>A
NR_104212.2:n.1747T>A
NR_104215.2:n.1690T>A
NR_104216.2:n.946T>A