Canonical Allele Identifier: CA431147792

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2752766
• ClinVar RCV Id: RCV003500050
• dbSNP Id: rs2106038846
• MyVariant Identifiers: chr2:g.215617218G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214752494G>A , CM000664.2:g.214752494G>A	GRCh38
NC_000002.11:g.215617218G>A , CM000664.1:g.215617218G>A	GRCh37
NC_000002.10:g.215325463G>A	NCBI36
NG_012047.2:g.62211C>T
NG_012047.3:g.62218C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1630C>T MANE Select	ENSP00000260947.4:p.Leu544=
ENST00000421162.2:c.277C>T	ENSP00000392245.2:p.Leu93=
ENST00000613192.2:c.159-21986C>T	ENSP00000483275.2:n.159-21986C>T
ENST00000613374.5:c.220C>T	ENSP00000484464.1:p.Leu74=
ENST00000613706.5:c.1222C>T	ENSP00000484976.2:p.Leu408=
ENST00000617164.5:c.1573C>T	ENSP00000480470.1:p.Leu525=
ENST00000619009.5:c.365-21986C>T	ENSP00000482293.1:n.365-21986C>T
ENST00000650978.1:c.3005C>T
ENST00000260947.8:c.1630C>T	ENSP00000260947.4:p.Leu544=
ENST00000421162.1:c.277C>T	ENSP00000392245.1:p.Leu93=
ENST00000455743.5:c.*1250C>T	ENSP00000412186.1:n.*1250C>T
ENST00000613192.1:c.74-21986C>T	ENSP00000483275.1:n.74-21986C>T
ENST00000613374.4:c.220C>T	ENSP00000484464.1:p.Leu74=
ENST00000613706.4:c.277C>T	ENSP00000484976.1:p.Leu93=
ENST00000617164.4:c.1573C>T	ENSP00000480470.1:p.Leu525=
ENST00000619009.4:c.365-21986C>T	ENSP00000482293.1:n.365-21986C>T
ENST00000620057.4:c.*296C>T	ENSP00000481988.1:n.*296C>T
NM_000465.3:c.1630C>T	NP_000456.2:p.Leu544=
NM_001282543.1:c.1573C>T	NP_001269472.1:p.Leu525=
NM_001282545.1:c.277C>T	NP_001269474.1:p.Leu93=
NM_001282548.1:c.220C>T	NP_001269477.1:p.Leu74=
NM_001282549.1:c.365-21986C>T	NP_001269478.1:n.365-21986C>T
NR_104212.1:n.1623C>T
NR_104215.1:n.1566C>T
NR_104216.1:n.822C>T
XM_011511567.1:c.1576C>T	XP_011509869.1:p.Leu526=
XM_011511568.1:c.1630C>T	XP_011509870.1:p.Leu544=
XM_017004613.1:c.1729C>T	XP_016860102.1:p.Leu577=
XM_017004614.1:c.1729C>T	XP_016860103.1:p.Leu577=
XR_002959322.1:n.1820C>T
NM_000465.4:c.1630C>T MANE Select	NP_000456.2:p.Leu544=
NM_001282543.2:c.1573C>T	NP_001269472.1:p.Leu525=
NM_001282545.2:c.277C>T	NP_001269474.1:p.Leu93=
NM_001282548.2:c.220C>T	NP_001269477.1:p.Leu74=
NM_001282549.2:c.365-21986C>T	NP_001269478.1:n.365-21986C>T
NR_104212.2:n.1595C>T
NR_104215.2:n.1538C>T
NR_104216.2:n.794C>T