Canonical Allele Identifier: CA431145036

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215609828A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745104A>T , CM000664.2:g.214745104A>T	GRCh38
NC_000002.11:g.215609828A>T , CM000664.1:g.215609828A>T	GRCh37
NC_000002.10:g.215318073A>T	NCBI36
NG_012047.2:g.69601T>A
NG_012047.3:g.69608T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1866T>A MANE Select	ENSP00000260947.4:p.Leu622=
ENST00000421162.2:c.513T>A	ENSP00000392245.2:p.Leu171=
ENST00000613192.2:c.159-14596T>A	ENSP00000483275.2:n.159-14596T>A
ENST00000613374.5:c.456T>A	ENSP00000484464.1:p.Leu152=
ENST00000613706.5:c.1458T>A	ENSP00000484976.2:p.Leu486=
ENST00000617164.5:c.1809T>A	ENSP00000480470.1:p.Leu603=
ENST00000619009.5:c.365-14596T>A	ENSP00000482293.1:n.365-14596T>A
ENST00000650978.1:c.3241T>A
ENST00000260947.8:c.1866T>A	ENSP00000260947.4:p.Leu622=
ENST00000421162.1:c.513T>A	ENSP00000392245.1:p.Leu171=
ENST00000455743.5:c.*1486T>A	ENSP00000412186.1:n.*1486T>A
ENST00000613192.1:c.74-14596T>A	ENSP00000483275.1:n.74-14596T>A
ENST00000613374.4:c.456T>A	ENSP00000484464.1:p.Leu152=
ENST00000613706.4:c.513T>A	ENSP00000484976.1:p.Leu171=
ENST00000617164.4:c.1809T>A	ENSP00000480470.1:p.Leu603=
ENST00000619009.4:c.365-14596T>A	ENSP00000482293.1:n.365-14596T>A
ENST00000620057.4:c.*532T>A	ENSP00000481988.1:n.*532T>A
NM_000465.3:c.1866T>A	NP_000456.2:p.Leu622=
NM_001282543.1:c.1809T>A	NP_001269472.1:p.Leu603=
NM_001282545.1:c.513T>A	NP_001269474.1:p.Leu171=
NM_001282548.1:c.456T>A	NP_001269477.1:p.Leu152=
NM_001282549.1:c.365-14596T>A	NP_001269478.1:n.365-14596T>A
NR_104212.1:n.1859T>A
NR_104215.1:n.1802T>A
NR_104216.1:n.1058T>A
XM_011511567.1:c.1812T>A	XP_011509869.1:p.Leu604=
XM_011511568.1:c.1866T>A	XP_011509870.1:p.Leu622=
XM_017004613.1:c.1965T>A	XP_016860102.1:p.Leu655=
XM_017004614.1:c.1965T>A	XP_016860103.1:p.Leu655=
XR_002959322.1:n.2056T>A
NM_000465.4:c.1866T>A MANE Select	NP_000456.2:p.Leu622=
NM_001282543.2:c.1809T>A	NP_001269472.1:p.Leu603=
NM_001282545.2:c.513T>A	NP_001269474.1:p.Leu171=
NM_001282548.2:c.456T>A	NP_001269477.1:p.Leu152=
NM_001282549.2:c.365-14596T>A	NP_001269478.1:n.365-14596T>A
NR_104212.2:n.1831T>A
NR_104215.2:n.1774T>A
NR_104216.2:n.1030T>A