Canonical Allele Identifier: CA350451302

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595220C>G (hg19) ; chr2:g.214730496C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730496C>G , CM000664.2:g.214730496C>G	GRCh38
NC_000002.11:g.215595220C>G , CM000664.1:g.215595220C>G	GRCh37
NC_000002.10:g.215303465C>G	NCBI36
NG_012047.2:g.84209G>C
NG_012047.3:g.84216G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1916G>C MANE Select	ENSP00000260947.4:p.Cys639Ser
ENST00000421162.2:c.563G>C	ENSP00000392245.2:p.Cys188Ser
ENST00000613192.2:c.171G>C	ENSP00000483275.2:p.Met57Ile
ENST00000613374.5:c.506G>C	ENSP00000484464.1:p.Cys169Ser
ENST00000613706.5:c.1508G>C	ENSP00000484976.2:p.Cys503Ser
ENST00000617164.5:c.1859G>C	ENSP00000480470.1:p.Cys620Ser
ENST00000619009.5:c.377G>C	ENSP00000482293.1:p.Cys126Ser
ENST00000650978.1:c.3291G>C
ENST00000260947.8:c.1916G>C	ENSP00000260947.4:p.Cys639Ser
ENST00000421162.1:c.563G>C	ENSP00000392245.1:p.Cys188Ser
ENST00000432456.5:c.13G>C
ENST00000455743.5:c.*1536G>C	ENSP00000412186.1:n.*1536G>C
ENST00000471590.5:n.251G>C
ENST00000613192.1:c.86G>C	ENSP00000483275.1:p.Cys29Ser
ENST00000613374.4:c.506G>C	ENSP00000484464.1:p.Cys169Ser
ENST00000613706.4:c.563G>C	ENSP00000484976.1:p.Cys188Ser
ENST00000617164.4:c.1859G>C	ENSP00000480470.1:p.Cys620Ser
ENST00000619009.4:c.377G>C	ENSP00000482293.1:p.Cys126Ser
ENST00000620057.4:c.*582G>C	ENSP00000481988.1:n.*582G>C
NM_000465.3:c.1916G>C	NP_000456.2:p.Cys639Ser
NM_001282543.1:c.1859G>C	NP_001269472.1:p.Cys620Ser
NM_001282545.1:c.563G>C	NP_001269474.1:p.Cys188Ser
NM_001282548.1:c.506G>C	NP_001269477.1:p.Cys169Ser
NM_001282549.1:c.377G>C	NP_001269478.1:p.Cys126Ser
NR_104212.1:n.1909G>C
NR_104215.1:n.1852G>C
NR_104216.1:n.1108G>C
XM_011511567.1:c.1862G>C	XP_011509869.1:p.Cys621Ser
XM_017004613.1:c.2015G>C	XP_016860102.1:p.Cys672Ser
XR_002959322.1:n.2106G>C
NM_000465.4:c.1916G>C MANE Select	NP_000456.2:p.Cys639Ser
NM_001282543.2:c.1859G>C	NP_001269472.1:p.Cys620Ser
NM_001282545.2:c.563G>C	NP_001269474.1:p.Cys188Ser
NM_001282548.2:c.506G>C	NP_001269477.1:p.Cys169Ser
NM_001282549.2:c.377G>C	NP_001269478.1:p.Cys126Ser
NR_104212.2:n.1881G>C
NR_104215.2:n.1824G>C
NR_104216.2:n.1080G>C