Canonical Allele Identifier: CA350452728

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215610478T>C (hg19) ; chr2:g.214745754T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745754T>C , CM000664.2:g.214745754T>C	GRCh38
NC_000002.11:g.215610478T>C , CM000664.1:g.215610478T>C	GRCh37
NC_000002.10:g.215318723T>C	NCBI36
NG_012047.2:g.68951A>G
NG_012047.3:g.68958A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1778A>G MANE Select	ENSP00000260947.4:p.Lys593Arg
ENST00000421162.2:c.425A>G	ENSP00000392245.2:p.Lys142Arg
ENST00000613192.2:c.159-15246A>G	ENSP00000483275.2:n.159-15246A>G
ENST00000613374.5:c.368A>G	ENSP00000484464.1:p.Lys123Arg
ENST00000613706.5:c.1370A>G	ENSP00000484976.2:p.Lys457Arg
ENST00000617164.5:c.1721A>G	ENSP00000480470.1:p.Lys574Arg
ENST00000619009.5:c.365-15246A>G	ENSP00000482293.1:n.365-15246A>G
ENST00000650978.1:c.3153A>G
ENST00000260947.8:c.1778A>G	ENSP00000260947.4:p.Lys593Arg
ENST00000421162.1:c.425A>G	ENSP00000392245.1:p.Lys142Arg
ENST00000455743.5:c.*1398A>G	ENSP00000412186.1:n.*1398A>G
ENST00000465841.1:n.133A>G
ENST00000613192.1:c.74-15246A>G	ENSP00000483275.1:n.74-15246A>G
ENST00000613374.4:c.368A>G	ENSP00000484464.1:p.Lys123Arg
ENST00000613706.4:c.425A>G	ENSP00000484976.1:p.Lys142Arg
ENST00000617164.4:c.1721A>G	ENSP00000480470.1:p.Lys574Arg
ENST00000619009.4:c.365-15246A>G	ENSP00000482293.1:n.365-15246A>G
ENST00000620057.4:c.*444A>G	ENSP00000481988.1:n.*444A>G
NM_000465.3:c.1778A>G	NP_000456.2:p.Lys593Arg
NM_001282543.1:c.1721A>G	NP_001269472.1:p.Lys574Arg
NM_001282545.1:c.425A>G	NP_001269474.1:p.Lys142Arg
NM_001282548.1:c.368A>G	NP_001269477.1:p.Lys123Arg
NM_001282549.1:c.365-15246A>G	NP_001269478.1:n.365-15246A>G
NR_104212.1:n.1771A>G
NR_104215.1:n.1714A>G
NR_104216.1:n.970A>G
XM_011511567.1:c.1724A>G	XP_011509869.1:p.Lys575Arg
XM_011511568.1:c.1778A>G	XP_011509870.1:p.Lys593Arg
XM_017004613.1:c.1877A>G	XP_016860102.1:p.Lys626Arg
XM_017004614.1:c.1877A>G	XP_016860103.1:p.Lys626Arg
XR_002959322.1:n.1968A>G
NM_000465.4:c.1778A>G MANE Select	NP_000456.2:p.Lys593Arg
NM_001282543.2:c.1721A>G	NP_001269472.1:p.Lys574Arg
NM_001282545.2:c.425A>G	NP_001269474.1:p.Lys142Arg
NM_001282548.2:c.368A>G	NP_001269477.1:p.Lys123Arg
NM_001282549.2:c.365-15246A>G	NP_001269478.1:n.365-15246A>G
NR_104212.2:n.1743A>G
NR_104215.2:n.1686A>G
NR_104216.2:n.942A>G