Canonical Allele Identifier: CA350451320

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595225T>A (hg19) ; chr2:g.214730501T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730501T>A , CM000664.2:g.214730501T>A	GRCh38
NC_000002.11:g.215595225T>A , CM000664.1:g.215595225T>A	GRCh37
NC_000002.10:g.215303470T>A	NCBI36
NG_012047.2:g.84204A>T
NG_012047.3:g.84211A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1911A>T MANE Select	ENSP00000260947.4:p.Lys637Asn
ENST00000421162.2:c.558A>T	ENSP00000392245.2:p.Lys186Asn
ENST00000613192.2:c.166A>T	ENSP00000483275.2:p.Ser56Cys
ENST00000613374.5:c.501A>T	ENSP00000484464.1:p.Lys167Asn
ENST00000613706.5:c.1503A>T	ENSP00000484976.2:p.Lys501Asn
ENST00000617164.5:c.1854A>T	ENSP00000480470.1:p.Lys618Asn
ENST00000619009.5:c.372A>T	ENSP00000482293.1:p.Lys124Asn
ENST00000650978.1:c.3286A>T
ENST00000260947.8:c.1911A>T	ENSP00000260947.4:p.Lys637Asn
ENST00000421162.1:c.558A>T	ENSP00000392245.1:p.Lys186Asn
ENST00000432456.5:c.8A>T
ENST00000455743.5:c.*1531A>T	ENSP00000412186.1:n.*1531A>T
ENST00000471590.5:n.246A>T
ENST00000613192.1:c.81A>T	ENSP00000483275.1:p.Lys27Asn
ENST00000613374.4:c.501A>T	ENSP00000484464.1:p.Lys167Asn
ENST00000613706.4:c.558A>T	ENSP00000484976.1:p.Lys186Asn
ENST00000617164.4:c.1854A>T	ENSP00000480470.1:p.Lys618Asn
ENST00000619009.4:c.372A>T	ENSP00000482293.1:p.Lys124Asn
ENST00000620057.4:c.*577A>T	ENSP00000481988.1:n.*577A>T
NM_000465.3:c.1911A>T	NP_000456.2:p.Lys637Asn
NM_001282543.1:c.1854A>T	NP_001269472.1:p.Lys618Asn
NM_001282545.1:c.558A>T	NP_001269474.1:p.Lys186Asn
NM_001282548.1:c.501A>T	NP_001269477.1:p.Lys167Asn
NM_001282549.1:c.372A>T	NP_001269478.1:p.Lys124Asn
NR_104212.1:n.1904A>T
NR_104215.1:n.1847A>T
NR_104216.1:n.1103A>T
XM_011511567.1:c.1857A>T	XP_011509869.1:p.Lys619Asn
XM_017004613.1:c.2010A>T	XP_016860102.1:p.Lys670Asn
XR_002959322.1:n.2101A>T
NM_000465.4:c.1911A>T MANE Select	NP_000456.2:p.Lys637Asn
NM_001282543.2:c.1854A>T	NP_001269472.1:p.Lys618Asn
NM_001282545.2:c.558A>T	NP_001269474.1:p.Lys186Asn
NM_001282548.2:c.501A>T	NP_001269477.1:p.Lys167Asn
NM_001282549.2:c.372A>T	NP_001269478.1:p.Lys124Asn
NR_104212.2:n.1876A>T
NR_104215.2:n.1819A>T
NR_104216.2:n.1075A>T