Canonical Allele Identifier: CA350450312
Community Standard Title: NM_000465.4(BARD1):c.2188C>T (p.Gln730Ter)
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728822G>A , CM000664.2:g.214728822G>A GRCh38
NC_000002.11:g.215593546G>A , CM000664.1:g.215593546G>A GRCh37
NC_000002.10:g.215301791G>A NCBI36
NG_012047.2:g.85883C>T
NG_012047.3:g.85890C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000465.4:c.2188C>T MANE Select NP_000456.2:p.Gln730Ter
ENST00000260947.9:c.2188C>T MANE Select ENSP00000260947.4:p.Gln730Ter
NM_000465.3:c.2188C>T NP_000456.2:p.Gln730Ter
NM_001282543.1:c.2131C>T NP_001269472.1:p.Gln711Ter
NM_001282543.2:c.2131C>T NP_001269472.1:p.Gln711Ter
NM_001282545.1:c.835C>T NP_001269474.1:p.Gln279Ter
NM_001282545.2:c.835C>T NP_001269474.1:p.Gln279Ter
NM_001282548.1:c.778C>T NP_001269477.1:p.Gln260Ter
NM_001282548.2:c.778C>T NP_001269477.1:p.Gln260Ter
NM_001282549.1:c.649C>T NP_001269478.1:p.Gln217Ter
NM_001282549.2:c.649C>T NP_001269478.1:p.Gln217Ter
NR_104212.1:n.2181C>T
NR_104212.2:n.2153C>T
NR_104215.1:n.2124C>T
NR_104215.2:n.2096C>T
NR_104216.1:n.1380C>T
NR_104216.2:n.1352C>T
ENST00000260947.8:c.2188C>T ENSP00000260947.4:p.Gln730Ter
ENST00000421162.2:c.835C>T ENSP00000392245.2:p.Gln279Ter
ENST00000432456.5:c.331C>T
ENST00000455743.5:c.*1808C>T ENSP00000412186.1:n.*1808C>T
ENST00000471590.5:n.523C>T
ENST00000613192.1:c.358C>T ENSP00000483275.1:p.Gln120Ter
ENST00000613192.2:c.*251C>T ENSP00000483275.2:n.*251C>T
ENST00000613374.4:c.778C>T ENSP00000484464.1:p.Gln260Ter
ENST00000613374.5:c.778C>T ENSP00000484464.1:p.Gln260Ter
ENST00000613706.4:c.835C>T ENSP00000484976.1:p.Gln279Ter
ENST00000613706.5:c.1780C>T ENSP00000484976.2:p.Gln594Ter
ENST00000617164.4:c.2131C>T ENSP00000480470.1:p.Gln711Ter
ENST00000617164.5:c.2131C>T ENSP00000480470.1:p.Gln711Ter
ENST00000619009.4:c.649C>T ENSP00000482293.1:p.Gln217Ter
ENST00000619009.5:c.649C>T ENSP00000482293.1:p.Gln217Ter
ENST00000620057.4:c.*854C>T ENSP00000481988.1:n.*854C>T
ENST00000650978.1:c.3563C>T
XM_011511567.1:c.2134C>T XP_011509869.1:p.Gln712Ter
XM_017004613.1:c.2287C>T XP_016860102.1:p.Gln763Ter
XR_002959322.1:n.2554C>T