Canonical Allele Identifier: CA350450722
Community Standard Title: NM_000465.4(BARD1):c.2050A>T (p.Lys684Ter)
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728960T>A , CM000664.2:g.214728960T>A GRCh38
NC_000002.11:g.215593684T>A , CM000664.1:g.215593684T>A GRCh37
NC_000002.10:g.215301929T>A NCBI36
NG_012047.2:g.85745A>T
NG_012047.3:g.85752A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000465.4:c.2050A>T MANE Select NP_000456.2:p.Lys684Ter
ENST00000260947.9:c.2050A>T MANE Select ENSP00000260947.4:p.Lys684Ter
NM_000465.3:c.2050A>T NP_000456.2:p.Lys684Ter
NM_001282543.1:c.1993A>T NP_001269472.1:p.Lys665Ter
NM_001282543.2:c.1993A>T NP_001269472.1:p.Lys665Ter
NM_001282545.1:c.697A>T NP_001269474.1:p.Lys233Ter
NM_001282545.2:c.697A>T NP_001269474.1:p.Lys233Ter
NM_001282548.1:c.640A>T NP_001269477.1:p.Lys214Ter
NM_001282548.2:c.640A>T NP_001269477.1:p.Lys214Ter
NM_001282549.1:c.511A>T NP_001269478.1:p.Lys171Ter
NM_001282549.2:c.511A>T NP_001269478.1:p.Lys171Ter
NR_104212.1:n.2043A>T
NR_104212.2:n.2015A>T
NR_104215.1:n.1986A>T
NR_104215.2:n.1958A>T
NR_104216.1:n.1242A>T
NR_104216.2:n.1214A>T
ENST00000260947.8:c.2050A>T ENSP00000260947.4:p.Lys684Ter
ENST00000421162.2:c.697A>T ENSP00000392245.2:p.Lys233Ter
ENST00000432456.5:c.193A>T
ENST00000455743.5:c.*1670A>T ENSP00000412186.1:n.*1670A>T
ENST00000471590.5:n.385A>T
ENST00000613192.1:c.220A>T ENSP00000483275.1:p.Lys74Ter
ENST00000613192.2:c.*113A>T ENSP00000483275.2:n.*113A>T
ENST00000613374.4:c.640A>T ENSP00000484464.1:p.Lys214Ter
ENST00000613374.5:c.640A>T ENSP00000484464.1:p.Lys214Ter
ENST00000613706.4:c.697A>T ENSP00000484976.1:p.Lys233Ter
ENST00000613706.5:c.1642A>T ENSP00000484976.2:p.Lys548Ter
ENST00000617164.4:c.1993A>T ENSP00000480470.1:p.Lys665Ter
ENST00000617164.5:c.1993A>T ENSP00000480470.1:p.Lys665Ter
ENST00000619009.4:c.511A>T ENSP00000482293.1:p.Lys171Ter
ENST00000619009.5:c.511A>T ENSP00000482293.1:p.Lys171Ter
ENST00000620057.4:c.*716A>T ENSP00000481988.1:n.*716A>T
ENST00000650978.1:c.3425A>T
XM_011511567.1:c.1996A>T XP_011509869.1:p.Lys666Ter
XM_017004613.1:c.2149A>T XP_016860102.1:p.Lys717Ter
XR_002959322.1:n.2416A>T