Canonical Allele Identifier: CA431147677

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215617186A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214752462A>T , CM000664.2:g.214752462A>T	GRCh38
NC_000002.11:g.215617186A>T , CM000664.1:g.215617186A>T	GRCh37
NC_000002.10:g.215325431A>T	NCBI36
NG_012047.2:g.62243T>A
NG_012047.3:g.62250T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1662T>A MANE Select	ENSP00000260947.4:p.Ala554=
ENST00000421162.2:c.309T>A	ENSP00000392245.2:p.Ala103=
ENST00000613192.2:c.159-21954T>A	ENSP00000483275.2:n.159-21954T>A
ENST00000613374.5:c.252T>A	ENSP00000484464.1:p.Ala84=
ENST00000613706.5:c.1254T>A	ENSP00000484976.2:p.Ala418=
ENST00000617164.5:c.1605T>A	ENSP00000480470.1:p.Ala535=
ENST00000619009.5:c.365-21954T>A	ENSP00000482293.1:n.365-21954T>A
ENST00000650978.1:c.3037T>A
ENST00000260947.8:c.1662T>A	ENSP00000260947.4:p.Ala554=
ENST00000421162.1:c.309T>A	ENSP00000392245.1:p.Ala103=
ENST00000455743.5:c.*1282T>A	ENSP00000412186.1:n.*1282T>A
ENST00000465841.1:n.17T>A
ENST00000613192.1:c.74-21954T>A	ENSP00000483275.1:n.74-21954T>A
ENST00000613374.4:c.252T>A	ENSP00000484464.1:p.Ala84=
ENST00000613706.4:c.309T>A	ENSP00000484976.1:p.Ala103=
ENST00000617164.4:c.1605T>A	ENSP00000480470.1:p.Ala535=
ENST00000619009.4:c.365-21954T>A	ENSP00000482293.1:n.365-21954T>A
ENST00000620057.4:c.*328T>A	ENSP00000481988.1:n.*328T>A
NM_000465.3:c.1662T>A	NP_000456.2:p.Ala554=
NM_001282543.1:c.1605T>A	NP_001269472.1:p.Ala535=
NM_001282545.1:c.309T>A	NP_001269474.1:p.Ala103=
NM_001282548.1:c.252T>A	NP_001269477.1:p.Ala84=
NM_001282549.1:c.365-21954T>A	NP_001269478.1:n.365-21954T>A
NR_104212.1:n.1655T>A
NR_104215.1:n.1598T>A
NR_104216.1:n.854T>A
XM_011511567.1:c.1608T>A	XP_011509869.1:p.Ala536=
XM_011511568.1:c.1662T>A	XP_011509870.1:p.Ala554=
XM_017004613.1:c.1761T>A	XP_016860102.1:p.Ala587=
XM_017004614.1:c.1761T>A	XP_016860103.1:p.Ala587=
XR_002959322.1:n.1852T>A
NM_000465.4:c.1662T>A MANE Select	NP_000456.2:p.Ala554=
NM_001282543.2:c.1605T>A	NP_001269472.1:p.Ala535=
NM_001282545.2:c.309T>A	NP_001269474.1:p.Ala103=
NM_001282548.2:c.252T>A	NP_001269477.1:p.Ala84=
NM_001282549.2:c.365-21954T>A	NP_001269478.1:n.365-21954T>A
NR_104212.2:n.1627T>A
NR_104215.2:n.1570T>A
NR_104216.2:n.826T>A