Canonical Allele Identifier: CA350451329

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595227T>A (hg19) ; chr2:g.214730503T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730503T>A , CM000664.2:g.214730503T>A	GRCh38
NC_000002.11:g.215595227T>A , CM000664.1:g.215595227T>A	GRCh37
NC_000002.10:g.215303472T>A	NCBI36
NG_012047.2:g.84202A>T
NG_012047.3:g.84209A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1909A>T MANE Select	ENSP00000260947.4:p.Lys637Ter
ENST00000421162.2:c.556A>T	ENSP00000392245.2:p.Lys186Ter
ENST00000613192.2:c.164A>T	ENSP00000483275.2:p.Lys55Ile
ENST00000613374.5:c.499A>T	ENSP00000484464.1:p.Lys167Ter
ENST00000613706.5:c.1501A>T	ENSP00000484976.2:p.Lys501Ter
ENST00000617164.5:c.1852A>T	ENSP00000480470.1:p.Lys618Ter
ENST00000619009.5:c.370A>T	ENSP00000482293.1:p.Lys124Ter
ENST00000650978.1:c.3284A>T
ENST00000260947.8:c.1909A>T	ENSP00000260947.4:p.Lys637Ter
ENST00000421162.1:c.556A>T	ENSP00000392245.1:p.Lys186Ter
ENST00000432456.5:c.6A>T
ENST00000455743.5:c.*1529A>T	ENSP00000412186.1:n.*1529A>T
ENST00000471590.5:n.244A>T
ENST00000613192.1:c.79A>T	ENSP00000483275.1:p.Lys27Ter
ENST00000613374.4:c.499A>T	ENSP00000484464.1:p.Lys167Ter
ENST00000613706.4:c.556A>T	ENSP00000484976.1:p.Lys186Ter
ENST00000617164.4:c.1852A>T	ENSP00000480470.1:p.Lys618Ter
ENST00000619009.4:c.370A>T	ENSP00000482293.1:p.Lys124Ter
ENST00000620057.4:c.*575A>T	ENSP00000481988.1:n.*575A>T
NM_000465.3:c.1909A>T	NP_000456.2:p.Lys637Ter
NM_001282543.1:c.1852A>T	NP_001269472.1:p.Lys618Ter
NM_001282545.1:c.556A>T	NP_001269474.1:p.Lys186Ter
NM_001282548.1:c.499A>T	NP_001269477.1:p.Lys167Ter
NM_001282549.1:c.370A>T	NP_001269478.1:p.Lys124Ter
NR_104212.1:n.1902A>T
NR_104215.1:n.1845A>T
NR_104216.1:n.1101A>T
XM_011511567.1:c.1855A>T	XP_011509869.1:p.Lys619Ter
XM_017004613.1:c.2008A>T	XP_016860102.1:p.Lys670Ter
XR_002959322.1:n.2099A>T
NM_000465.4:c.1909A>T MANE Select	NP_000456.2:p.Lys637Ter
NM_001282543.2:c.1852A>T	NP_001269472.1:p.Lys618Ter
NM_001282545.2:c.556A>T	NP_001269474.1:p.Lys186Ter
NM_001282548.2:c.499A>T	NP_001269477.1:p.Lys167Ter
NM_001282549.2:c.370A>T	NP_001269478.1:p.Lys124Ter
NR_104212.2:n.1874A>T
NR_104215.2:n.1817A>T
NR_104216.2:n.1073A>T