Canonical Allele Identifier: CA431139682
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1144920
dbSNP Id: rs1553612535
MyVariant Identifiers: chr2:g.215595218G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214730494G>A , CM000664.2:g.214730494G>A GRCh38
NC_000002.11:g.215595218G>A , CM000664.1:g.215595218G>A GRCh37
NC_000002.10:g.215303463G>A NCBI36
NG_012047.2:g.84211C>T
NG_012047.3:g.84218C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1918C>T MANE Select ENSP00000260947.4:p.Leu640=
ENST00000421162.2:c.565C>T ENSP00000392245.2:p.Leu189=
ENST00000613192.2:c.173C>T ENSP00000483275.2:p.Ser58Phe
ENST00000613374.5:c.508C>T ENSP00000484464.1:p.Leu170=
ENST00000613706.5:c.1510C>T ENSP00000484976.2:p.Leu504=
ENST00000617164.5:c.1861C>T ENSP00000480470.1:p.Leu621=
ENST00000619009.5:c.379C>T ENSP00000482293.1:p.Leu127=
ENST00000650978.1:c.3293C>T
ENST00000260947.8:c.1918C>T ENSP00000260947.4:p.Leu640=
ENST00000421162.1:c.565C>T ENSP00000392245.1:p.Leu189=
ENST00000432456.5:c.15C>T
ENST00000455743.5:c.*1538C>T ENSP00000412186.1:n.*1538C>T
ENST00000471590.5:n.253C>T
ENST00000613192.1:c.88C>T ENSP00000483275.1:p.Leu30=
ENST00000613374.4:c.508C>T ENSP00000484464.1:p.Leu170=
ENST00000613706.4:c.565C>T ENSP00000484976.1:p.Leu189=
ENST00000617164.4:c.1861C>T ENSP00000480470.1:p.Leu621=
ENST00000619009.4:c.379C>T ENSP00000482293.1:p.Leu127=
ENST00000620057.4:c.*584C>T ENSP00000481988.1:n.*584C>T
NM_000465.3:c.1918C>T NP_000456.2:p.Leu640=
NM_001282543.1:c.1861C>T NP_001269472.1:p.Leu621=
NM_001282545.1:c.565C>T NP_001269474.1:p.Leu189=
NM_001282548.1:c.508C>T NP_001269477.1:p.Leu170=
NM_001282549.1:c.379C>T NP_001269478.1:p.Leu127=
NR_104212.1:n.1911C>T
NR_104215.1:n.1854C>T
NR_104216.1:n.1110C>T
XM_011511567.1:c.1864C>T XP_011509869.1:p.Leu622=
XM_017004613.1:c.2017C>T XP_016860102.1:p.Leu673=
XR_002959322.1:n.2108C>T
NM_000465.4:c.1918C>T MANE Select NP_000456.2:p.Leu640=
NM_001282543.2:c.1861C>T NP_001269472.1:p.Leu621=
NM_001282545.2:c.565C>T NP_001269474.1:p.Leu189=
NM_001282548.2:c.508C>T NP_001269477.1:p.Leu170=
NM_001282549.2:c.379C>T NP_001269478.1:p.Leu127=
NR_104212.2:n.1883C>T
NR_104215.2:n.1826C>T
NR_104216.2:n.1082C>T