Canonical Allele Identifier: CA431139559

Gene: BARD1

Linked Data

• ClinVar Variation Id: 485320
• ClinVar RCV Id: RCV000564390 ; RCV002060511
• dbSNP Id: rs1553612524
• MyVariant Identifiers: chr2:g.215595201A>G (hg19) ; chr2:g.214730477A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730477A>G , CM000664.2:g.214730477A>G	GRCh38
NC_000002.11:g.215595201A>G , CM000664.1:g.215595201A>G	GRCh37
NC_000002.10:g.215303446A>G	NCBI36
NG_012047.2:g.84228T>C
NG_012047.3:g.84235T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1935T>C MANE Select	ENSP00000260947.4:p.Cys645=
ENST00000421162.2:c.582T>C	ENSP00000392245.2:p.Cys194=
ENST00000613192.2:c.190T>C	ENSP00000483275.2:p.Ter64Arg
ENST00000613374.5:c.525T>C	ENSP00000484464.1:p.Cys175=
ENST00000613706.5:c.1527T>C	ENSP00000484976.2:p.Cys509=
ENST00000617164.5:c.1878T>C	ENSP00000480470.1:p.Cys626=
ENST00000619009.5:c.396T>C	ENSP00000482293.1:p.Cys132=
ENST00000650978.1:c.3310T>C
ENST00000260947.8:c.1935T>C	ENSP00000260947.4:p.Cys645=
ENST00000421162.1:c.582T>C	ENSP00000392245.1:p.Cys194=
ENST00000432456.5:c.32T>C
ENST00000455743.5:c.*1555T>C	ENSP00000412186.1:n.*1555T>C
ENST00000471590.5:n.270T>C
ENST00000613192.1:c.105T>C	ENSP00000483275.1:p.Cys35=
ENST00000613374.4:c.525T>C	ENSP00000484464.1:p.Cys175=
ENST00000613706.4:c.582T>C	ENSP00000484976.1:p.Cys194=
ENST00000617164.4:c.1878T>C	ENSP00000480470.1:p.Cys626=
ENST00000619009.4:c.396T>C	ENSP00000482293.1:p.Cys132=
ENST00000620057.4:c.*601T>C	ENSP00000481988.1:n.*601T>C
NM_000465.3:c.1935T>C	NP_000456.2:p.Cys645=
NM_001282543.1:c.1878T>C	NP_001269472.1:p.Cys626=
NM_001282545.1:c.582T>C	NP_001269474.1:p.Cys194=
NM_001282548.1:c.525T>C	NP_001269477.1:p.Cys175=
NM_001282549.1:c.396T>C	NP_001269478.1:p.Cys132=
NR_104212.1:n.1928T>C
NR_104215.1:n.1871T>C
NR_104216.1:n.1127T>C
XM_011511567.1:c.1881T>C	XP_011509869.1:p.Cys627=
XM_017004613.1:c.2034T>C	XP_016860102.1:p.Cys678=
XR_002959322.1:n.2125T>C
NM_000465.4:c.1935T>C MANE Select	NP_000456.2:p.Cys645=
NM_001282543.2:c.1878T>C	NP_001269472.1:p.Cys626=
NM_001282545.2:c.582T>C	NP_001269474.1:p.Cys194=
NM_001282548.2:c.525T>C	NP_001269477.1:p.Cys175=
NM_001282549.2:c.396T>C	NP_001269478.1:p.Cys132=
NR_104212.2:n.1900T>C
NR_104215.2:n.1843T>C
NR_104216.2:n.1099T>C