Canonical Allele Identifier: CA350451272

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1362228
• ClinVar RCV Id: RCV001932176
• dbSNP Id: rs1420797541
• MyVariant Identifiers: chr2:g.215595211C>A (hg19) ; chr2:g.214730487C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730487C>A , CM000664.2:g.214730487C>A	GRCh38
NC_000002.11:g.215595211C>A , CM000664.1:g.215595211C>A	GRCh37
NC_000002.10:g.215303456C>A	NCBI36
NG_012047.2:g.84218G>T
NG_012047.3:g.84225G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1925G>T MANE Select	ENSP00000260947.4:p.Arg642Ile
ENST00000421162.2:c.572G>T	ENSP00000392245.2:p.Arg191Ile
ENST00000613192.2:c.180G>T	ENSP00000483275.2:p.Lys60Asn
ENST00000613374.5:c.515G>T	ENSP00000484464.1:p.Arg172Ile
ENST00000613706.5:c.1517G>T	ENSP00000484976.2:p.Arg506Ile
ENST00000617164.5:c.1868G>T	ENSP00000480470.1:p.Arg623Ile
ENST00000619009.5:c.386G>T	ENSP00000482293.1:p.Arg129Ile
ENST00000650978.1:c.3300G>T
ENST00000260947.8:c.1925G>T	ENSP00000260947.4:p.Arg642Ile
ENST00000421162.1:c.572G>T	ENSP00000392245.1:p.Arg191Ile
ENST00000432456.5:c.22G>T
ENST00000455743.5:c.*1545G>T	ENSP00000412186.1:n.*1545G>T
ENST00000471590.5:n.260G>T
ENST00000613192.1:c.95G>T	ENSP00000483275.1:p.Arg32Ile
ENST00000613374.4:c.515G>T	ENSP00000484464.1:p.Arg172Ile
ENST00000613706.4:c.572G>T	ENSP00000484976.1:p.Arg191Ile
ENST00000617164.4:c.1868G>T	ENSP00000480470.1:p.Arg623Ile
ENST00000619009.4:c.386G>T	ENSP00000482293.1:p.Arg129Ile
ENST00000620057.4:c.*591G>T	ENSP00000481988.1:n.*591G>T
NM_000465.3:c.1925G>T	NP_000456.2:p.Arg642Ile
NM_001282543.1:c.1868G>T	NP_001269472.1:p.Arg623Ile
NM_001282545.1:c.572G>T	NP_001269474.1:p.Arg191Ile
NM_001282548.1:c.515G>T	NP_001269477.1:p.Arg172Ile
NM_001282549.1:c.386G>T	NP_001269478.1:p.Arg129Ile
NR_104212.1:n.1918G>T
NR_104215.1:n.1861G>T
NR_104216.1:n.1117G>T
XM_011511567.1:c.1871G>T	XP_011509869.1:p.Arg624Ile
XM_017004613.1:c.2024G>T	XP_016860102.1:p.Arg675Ile
XR_002959322.1:n.2115G>T
NM_000465.4:c.1925G>T MANE Select	NP_000456.2:p.Arg642Ile
NM_001282543.2:c.1868G>T	NP_001269472.1:p.Arg623Ile
NM_001282545.2:c.572G>T	NP_001269474.1:p.Arg191Ile
NM_001282548.2:c.515G>T	NP_001269477.1:p.Arg172Ile
NM_001282549.2:c.386G>T	NP_001269478.1:p.Arg129Ile
NR_104212.2:n.1890G>T
NR_104215.2:n.1833G>T
NR_104216.2:n.1089G>T