Canonical Allele Identifier: CA350450648
Community Standard Title: NM_000465.4(BARD1):c.2086A>G (p.Thr696Ala)
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728924T>C , CM000664.2:g.214728924T>C GRCh38
NC_000002.11:g.215593648T>C , CM000664.1:g.215593648T>C GRCh37
NC_000002.10:g.215301893T>C NCBI36
NG_012047.2:g.85781A>G
NG_012047.3:g.85788A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000465.4:c.2086A>G MANE Select NP_000456.2:p.Thr696Ala
ENST00000260947.9:c.2086A>G MANE Select ENSP00000260947.4:p.Thr696Ala
NM_000465.3:c.2086A>G NP_000456.2:p.Thr696Ala
NM_001282543.1:c.2029A>G NP_001269472.1:p.Thr677Ala
NM_001282543.2:c.2029A>G NP_001269472.1:p.Thr677Ala
NM_001282545.1:c.733A>G NP_001269474.1:p.Thr245Ala
NM_001282545.2:c.733A>G NP_001269474.1:p.Thr245Ala
NM_001282548.1:c.676A>G NP_001269477.1:p.Thr226Ala
NM_001282548.2:c.676A>G NP_001269477.1:p.Thr226Ala
NM_001282549.1:c.547A>G NP_001269478.1:p.Thr183Ala
NM_001282549.2:c.547A>G NP_001269478.1:p.Thr183Ala
NR_104212.1:n.2079A>G
NR_104212.2:n.2051A>G
NR_104215.1:n.2022A>G
NR_104215.2:n.1994A>G
NR_104216.1:n.1278A>G
NR_104216.2:n.1250A>G
ENST00000260947.8:c.2086A>G ENSP00000260947.4:p.Thr696Ala
ENST00000421162.2:c.733A>G ENSP00000392245.2:p.Thr245Ala
ENST00000432456.5:c.229A>G
ENST00000455743.5:c.*1706A>G ENSP00000412186.1:n.*1706A>G
ENST00000471590.5:n.421A>G
ENST00000613192.1:c.256A>G ENSP00000483275.1:p.Thr86Ala
ENST00000613192.2:c.*149A>G ENSP00000483275.2:n.*149A>G
ENST00000613374.4:c.676A>G ENSP00000484464.1:p.Thr226Ala
ENST00000613374.5:c.676A>G ENSP00000484464.1:p.Thr226Ala
ENST00000613706.4:c.733A>G ENSP00000484976.1:p.Thr245Ala
ENST00000613706.5:c.1678A>G ENSP00000484976.2:p.Thr560Ala
ENST00000617164.4:c.2029A>G ENSP00000480470.1:p.Thr677Ala
ENST00000617164.5:c.2029A>G ENSP00000480470.1:p.Thr677Ala
ENST00000619009.4:c.547A>G ENSP00000482293.1:p.Thr183Ala
ENST00000619009.5:c.547A>G ENSP00000482293.1:p.Thr183Ala
ENST00000620057.4:c.*752A>G ENSP00000481988.1:n.*752A>G
ENST00000650978.1:c.3461A>G
XM_011511567.1:c.2032A>G XP_011509869.1:p.Thr678Ala
XM_017004613.1:c.2185A>G XP_016860102.1:p.Thr729Ala
XR_002959322.1:n.2452A>G