Canonical Allele Identifier: CA350452761

Gene: BARD1

Linked Data

• ClinVar Variation Id: 820035
• ClinVar RCV Id: RCV001013067 ; RCV001860734
• dbSNP Id: rs1574739070
• MyVariant Identifiers: chr2:g.215610482G>A (hg19) ; chr2:g.214745758G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745758G>A , CM000664.2:g.214745758G>A	GRCh38
NC_000002.11:g.215610482G>A , CM000664.1:g.215610482G>A	GRCh37
NC_000002.10:g.215318727G>A	NCBI36
NG_012047.2:g.68947C>T
NG_012047.3:g.68954C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1774C>T MANE Select	ENSP00000260947.4:p.Leu592Phe
ENST00000421162.2:c.421C>T	ENSP00000392245.2:p.Leu141Phe
ENST00000613192.2:c.159-15250C>T	ENSP00000483275.2:n.159-15250C>T
ENST00000613374.5:c.364C>T	ENSP00000484464.1:p.Leu122Phe
ENST00000613706.5:c.1366C>T	ENSP00000484976.2:p.Leu456Phe
ENST00000617164.5:c.1717C>T	ENSP00000480470.1:p.Leu573Phe
ENST00000619009.5:c.365-15250C>T	ENSP00000482293.1:n.365-15250C>T
ENST00000650978.1:c.3149C>T
ENST00000260947.8:c.1774C>T	ENSP00000260947.4:p.Leu592Phe
ENST00000421162.1:c.421C>T	ENSP00000392245.1:p.Leu141Phe
ENST00000455743.5:c.*1394C>T	ENSP00000412186.1:n.*1394C>T
ENST00000465841.1:n.129C>T
ENST00000613192.1:c.74-15250C>T	ENSP00000483275.1:n.74-15250C>T
ENST00000613374.4:c.364C>T	ENSP00000484464.1:p.Leu122Phe
ENST00000613706.4:c.421C>T	ENSP00000484976.1:p.Leu141Phe
ENST00000617164.4:c.1717C>T	ENSP00000480470.1:p.Leu573Phe
ENST00000619009.4:c.365-15250C>T	ENSP00000482293.1:n.365-15250C>T
ENST00000620057.4:c.*440C>T	ENSP00000481988.1:n.*440C>T
NM_000465.3:c.1774C>T	NP_000456.2:p.Leu592Phe
NM_001282543.1:c.1717C>T	NP_001269472.1:p.Leu573Phe
NM_001282545.1:c.421C>T	NP_001269474.1:p.Leu141Phe
NM_001282548.1:c.364C>T	NP_001269477.1:p.Leu122Phe
NM_001282549.1:c.365-15250C>T	NP_001269478.1:n.365-15250C>T
NR_104212.1:n.1767C>T
NR_104215.1:n.1710C>T
NR_104216.1:n.966C>T
XM_011511567.1:c.1720C>T	XP_011509869.1:p.Leu574Phe
XM_011511568.1:c.1774C>T	XP_011509870.1:p.Leu592Phe
XM_017004613.1:c.1873C>T	XP_016860102.1:p.Leu625Phe
XM_017004614.1:c.1873C>T	XP_016860103.1:p.Leu625Phe
XR_002959322.1:n.1964C>T
NM_000465.4:c.1774C>T MANE Select	NP_000456.2:p.Leu592Phe
NM_001282543.2:c.1717C>T	NP_001269472.1:p.Leu573Phe
NM_001282545.2:c.421C>T	NP_001269474.1:p.Leu141Phe
NM_001282548.2:c.364C>T	NP_001269477.1:p.Leu122Phe
NM_001282549.2:c.365-15250C>T	NP_001269478.1:n.365-15250C>T
NR_104212.2:n.1739C>T
NR_104215.2:n.1682C>T
NR_104216.2:n.938C>T