Canonical Allele Identifier: CA431139606
Gene: BARD1 HGNC NCBI

Linked Data

dbSNP Id: rs2105990798
MyVariant Identifiers: chr2:g.215595207T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214730483T>C , CM000664.2:g.214730483T>C GRCh38
NC_000002.11:g.215595207T>C , CM000664.1:g.215595207T>C GRCh37
NC_000002.10:g.215303452T>C NCBI36
NG_012047.2:g.84222A>G
NG_012047.3:g.84229A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1929A>G MANE Select ENSP00000260947.4:p.Lys643=
ENST00000421162.2:c.576A>G ENSP00000392245.2:p.Lys192=
ENST00000613192.2:c.184A>G ENSP00000483275.2:p.Ser62Gly
ENST00000613374.5:c.519A>G ENSP00000484464.1:p.Lys173=
ENST00000613706.5:c.1521A>G ENSP00000484976.2:p.Lys507=
ENST00000617164.5:c.1872A>G ENSP00000480470.1:p.Lys624=
ENST00000619009.5:c.390A>G ENSP00000482293.1:p.Lys130=
ENST00000650978.1:c.3304A>G
ENST00000260947.8:c.1929A>G ENSP00000260947.4:p.Lys643=
ENST00000421162.1:c.576A>G ENSP00000392245.1:p.Lys192=
ENST00000432456.5:c.26A>G
ENST00000455743.5:c.*1549A>G ENSP00000412186.1:n.*1549A>G
ENST00000471590.5:n.264A>G
ENST00000613192.1:c.99A>G ENSP00000483275.1:p.Lys33=
ENST00000613374.4:c.519A>G ENSP00000484464.1:p.Lys173=
ENST00000613706.4:c.576A>G ENSP00000484976.1:p.Lys192=
ENST00000617164.4:c.1872A>G ENSP00000480470.1:p.Lys624=
ENST00000619009.4:c.390A>G ENSP00000482293.1:p.Lys130=
ENST00000620057.4:c.*595A>G ENSP00000481988.1:n.*595A>G
NM_000465.3:c.1929A>G NP_000456.2:p.Lys643=
NM_001282543.1:c.1872A>G NP_001269472.1:p.Lys624=
NM_001282545.1:c.576A>G NP_001269474.1:p.Lys192=
NM_001282548.1:c.519A>G NP_001269477.1:p.Lys173=
NM_001282549.1:c.390A>G NP_001269478.1:p.Lys130=
NR_104212.1:n.1922A>G
NR_104215.1:n.1865A>G
NR_104216.1:n.1121A>G
XM_011511567.1:c.1875A>G XP_011509869.1:p.Lys625=
XM_017004613.1:c.2028A>G XP_016860102.1:p.Lys676=
XR_002959322.1:n.2119A>G
NM_000465.4:c.1929A>G MANE Select NP_000456.2:p.Lys643=
NM_001282543.2:c.1872A>G NP_001269472.1:p.Lys624=
NM_001282545.2:c.576A>G NP_001269474.1:p.Lys192=
NM_001282548.2:c.519A>G NP_001269477.1:p.Lys173=
NM_001282549.2:c.390A>G NP_001269478.1:p.Lys130=
NR_104212.2:n.1894A>G
NR_104215.2:n.1837A>G
NR_104216.2:n.1093A>G