Canonical Allele Identifier: CA350449782

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593431A>C (hg19) ; chr2:g.214728707A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728707A>C , CM000664.2:g.214728707A>C	GRCh38
NC_000002.11:g.215593431A>C , CM000664.1:g.215593431A>C	GRCh37
NC_000002.10:g.215301676A>C	NCBI36
NG_012047.2:g.85998T>G
NG_012047.3:g.86005T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2303T>G MANE Select	ENSP00000260947.4:p.Met768Arg
ENST00000421162.2:c.950T>G	ENSP00000392245.2:p.Met317Arg
ENST00000613192.2:c.*366T>G	ENSP00000483275.2:n.*366T>G
ENST00000613374.5:c.893T>G	ENSP00000484464.1:p.Met298Arg
ENST00000613706.5:c.1895T>G	ENSP00000484976.2:p.Met632Arg
ENST00000617164.5:c.2246T>G	ENSP00000480470.1:p.Met749Arg
ENST00000619009.5:c.764T>G	ENSP00000482293.1:p.Met255Arg
ENST00000650978.1:c.3678T>G
ENST00000260947.8:c.2303T>G	ENSP00000260947.4:p.Met768Arg
ENST00000432456.5:c.446T>G
ENST00000455743.5:c.*1923T>G	ENSP00000412186.1:n.*1923T>G
ENST00000471590.5:n.638T>G
ENST00000613192.1:c.473T>G	ENSP00000483275.1:p.Met158Arg
ENST00000613374.4:c.893T>G	ENSP00000484464.1:p.Met298Arg
ENST00000613706.4:c.950T>G	ENSP00000484976.1:p.Met317Arg
ENST00000617164.4:c.2246T>G	ENSP00000480470.1:p.Met749Arg
ENST00000619009.4:c.764T>G	ENSP00000482293.1:p.Met255Arg
ENST00000620057.4:c.*969T>G	ENSP00000481988.1:n.*969T>G
NM_000465.3:c.2303T>G	NP_000456.2:p.Met768Arg
NM_001282543.1:c.2246T>G	NP_001269472.1:p.Met749Arg
NM_001282545.1:c.950T>G	NP_001269474.1:p.Met317Arg
NM_001282548.1:c.893T>G	NP_001269477.1:p.Met298Arg
NM_001282549.1:c.764T>G	NP_001269478.1:p.Met255Arg
NR_104212.1:n.2296T>G
NR_104215.1:n.2239T>G
NR_104216.1:n.1495T>G
XM_011511567.1:c.2249T>G	XP_011509869.1:p.Met750Arg
XM_017004613.1:c.2402T>G	XP_016860102.1:p.Met801Arg
XR_002959322.1:n.2669T>G
NM_000465.4:c.2303T>G MANE Select	NP_000456.2:p.Met768Arg
NM_001282543.2:c.2246T>G	NP_001269472.1:p.Met749Arg
NM_001282545.2:c.950T>G	NP_001269474.1:p.Met317Arg
NM_001282548.2:c.893T>G	NP_001269477.1:p.Met298Arg
NM_001282549.2:c.764T>G	NP_001269478.1:p.Met255Arg
NR_104212.2:n.2268T>G
NR_104215.2:n.2211T>G
NR_104216.2:n.1467T>G