Canonical Allele Identifier: CA350461024

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215657092T>A (hg19) ; chr2:g.214792368T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792368T>A , CM000664.2:g.214792368T>A	GRCh38
NC_000002.11:g.215657092T>A , CM000664.1:g.215657092T>A	GRCh37
NC_000002.10:g.215365337T>A	NCBI36
NG_012047.2:g.22337A>T
NG_012047.3:g.22344A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.293A>T MANE Select	ENSP00000260947.4:p.Asn98Ile
ENST00000421162.2:c.215+4693A>T	ENSP00000392245.2:n.215+4693A>T
ENST00000613192.2:c.158+17044A>T	ENSP00000483275.2:n.158+17044A>T
ENST00000613374.5:c.158+17044A>T	ENSP00000484464.1:n.158+17044A>T
ENST00000613706.5:c.293A>T	ENSP00000484976.2:p.Asn98Ile
ENST00000617164.5:c.236A>T	ENSP00000480470.1:p.Asn79Ile
ENST00000619009.5:c.293A>T	ENSP00000482293.1:p.Asn98Ile
ENST00000650978.1:c.135A>T
ENST00000260947.8:c.293A>T	ENSP00000260947.4:p.Asn98Ile
ENST00000421162.1:c.215+4693A>T	ENSP00000392245.1:n.215+4693A>T
ENST00000455743.5:c.215+4693A>T	ENSP00000412186.1:n.215+4693A>T
ENST00000471787.1:n.260-10859A>T
ENST00000613192.1:c.73+17044A>T	ENSP00000483275.1:n.73+17044A>T
ENST00000613374.4:c.158+17044A>T	ENSP00000484464.1:n.158+17044A>T
ENST00000613706.4:c.215+4693A>T	ENSP00000484976.1:n.215+4693A>T
ENST00000617164.4:c.236A>T	ENSP00000480470.1:p.Asn79Ile
ENST00000619009.4:c.293A>T	ENSP00000482293.1:p.Asn98Ile
ENST00000620057.4:c.293A>T	ENSP00000481988.1:p.Asn98Ile
NM_000465.3:c.293A>T	NP_000456.2:p.Asn98Ile
NM_001282543.1:c.236A>T	NP_001269472.1:p.Asn79Ile
NM_001282545.1:c.215+4693A>T	NP_001269474.1:n.215+4693A>T
NM_001282548.1:c.158+17044A>T	NP_001269477.1:n.158+17044A>T
NM_001282549.1:c.293A>T	NP_001269478.1:p.Asn98Ile
NR_104212.1:n.357+4693A>T
NR_104215.1:n.301-10859A>T
NR_104216.1:n.435A>T
XM_011511567.1:c.239A>T	XP_011509869.1:p.Asn80Ile
XM_011511568.1:c.293A>T	XP_011509870.1:p.Asn98Ile
XM_017004613.1:c.392A>T	XP_016860102.1:p.Asn131Ile
XM_017004614.1:c.392A>T	XP_016860103.1:p.Asn131Ile
XR_002959322.1:n.483A>T
NM_000465.4:c.293A>T MANE Select	NP_000456.2:p.Asn98Ile
NM_001282543.2:c.236A>T	NP_001269472.1:p.Asn79Ile
NM_001282545.2:c.215+4693A>T	NP_001269474.1:n.215+4693A>T
NM_001282548.2:c.158+17044A>T	NP_001269477.1:n.158+17044A>T
NM_001282549.2:c.293A>T	NP_001269478.1:p.Asn98Ile
NR_104212.2:n.329+4693A>T
NR_104215.2:n.273-10859A>T
NR_104216.2:n.407A>T