Canonical Allele Identifier: CA350452104

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215609818T>A (hg19) ; chr2:g.214745094T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745094T>A , CM000664.2:g.214745094T>A	GRCh38
NC_000002.11:g.215609818T>A , CM000664.1:g.215609818T>A	GRCh37
NC_000002.10:g.215318063T>A	NCBI36
NG_012047.2:g.69611A>T
NG_012047.3:g.69618A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1876A>T MANE Select	ENSP00000260947.4:p.Asn626Tyr
ENST00000421162.2:c.523A>T	ENSP00000392245.2:p.Asn175Tyr
ENST00000613192.2:c.159-14586A>T	ENSP00000483275.2:n.159-14586A>T
ENST00000613374.5:c.466A>T	ENSP00000484464.1:p.Asn156Tyr
ENST00000613706.5:c.1468A>T	ENSP00000484976.2:p.Asn490Tyr
ENST00000617164.5:c.1819A>T	ENSP00000480470.1:p.Asn607Tyr
ENST00000619009.5:c.365-14586A>T	ENSP00000482293.1:n.365-14586A>T
ENST00000650978.1:c.3251A>T
ENST00000260947.8:c.1876A>T	ENSP00000260947.4:p.Asn626Tyr
ENST00000421162.1:c.523A>T	ENSP00000392245.1:p.Asn175Tyr
ENST00000455743.5:c.*1496A>T	ENSP00000412186.1:n.*1496A>T
ENST00000613192.1:c.74-14586A>T	ENSP00000483275.1:n.74-14586A>T
ENST00000613374.4:c.466A>T	ENSP00000484464.1:p.Asn156Tyr
ENST00000613706.4:c.523A>T	ENSP00000484976.1:p.Asn175Tyr
ENST00000617164.4:c.1819A>T	ENSP00000480470.1:p.Asn607Tyr
ENST00000619009.4:c.365-14586A>T	ENSP00000482293.1:n.365-14586A>T
ENST00000620057.4:c.*542A>T	ENSP00000481988.1:n.*542A>T
NM_000465.3:c.1876A>T	NP_000456.2:p.Asn626Tyr
NM_001282543.1:c.1819A>T	NP_001269472.1:p.Asn607Tyr
NM_001282545.1:c.523A>T	NP_001269474.1:p.Asn175Tyr
NM_001282548.1:c.466A>T	NP_001269477.1:p.Asn156Tyr
NM_001282549.1:c.365-14586A>T	NP_001269478.1:n.365-14586A>T
NR_104212.1:n.1869A>T
NR_104215.1:n.1812A>T
NR_104216.1:n.1068A>T
XM_011511567.1:c.1822A>T	XP_011509869.1:p.Asn608Tyr
XM_011511568.1:c.1876A>T	XP_011509870.1:p.Asn626Tyr
XM_017004613.1:c.1975A>T	XP_016860102.1:p.Asn659Tyr
XM_017004614.1:c.1975A>T	XP_016860103.1:p.Asn659Tyr
XR_002959322.1:n.2066A>T
NM_000465.4:c.1876A>T MANE Select	NP_000456.2:p.Asn626Tyr
NM_001282543.2:c.1819A>T	NP_001269472.1:p.Asn607Tyr
NM_001282545.2:c.523A>T	NP_001269474.1:p.Asn175Tyr
NM_001282548.2:c.466A>T	NP_001269477.1:p.Asn156Tyr
NM_001282549.2:c.365-14586A>T	NP_001269478.1:n.365-14586A>T
NR_104212.2:n.1841A>T
NR_104215.2:n.1784A>T
NR_104216.2:n.1040A>T