Canonical Allele Identifier: CA350451127

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595158T>C (hg19) ; chr2:g.214730434T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730434T>C , CM000664.2:g.214730434T>C	GRCh38
NC_000002.11:g.215595158T>C , CM000664.1:g.215595158T>C	GRCh37
NC_000002.10:g.215303403T>C	NCBI36
NG_012047.2:g.84271A>G
NG_012047.3:g.84278A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1978A>G MANE Select	ENSP00000260947.4:p.Ser660Gly
ENST00000421162.2:c.625A>G	ENSP00000392245.2:p.Ser209Gly
ENST00000613192.2:c.*41A>G	ENSP00000483275.2:n.*41A>G
ENST00000613374.5:c.568A>G	ENSP00000484464.1:p.Ser190Gly
ENST00000613706.5:c.1570A>G	ENSP00000484976.2:p.Ser524Gly
ENST00000617164.5:c.1921A>G	ENSP00000480470.1:p.Ser641Gly
ENST00000619009.5:c.439A>G	ENSP00000482293.1:p.Ser147Gly
ENST00000650978.1:c.3353A>G
ENST00000260947.8:c.1978A>G	ENSP00000260947.4:p.Ser660Gly
ENST00000421162.1:c.625A>G	ENSP00000392245.1:p.Ser209Gly
ENST00000432456.5:c.75A>G
ENST00000455743.5:c.*1598A>G	ENSP00000412186.1:n.*1598A>G
ENST00000471590.5:n.313A>G
ENST00000613192.1:c.148A>G	ENSP00000483275.1:p.Ser50Gly
ENST00000613374.4:c.568A>G	ENSP00000484464.1:p.Ser190Gly
ENST00000613706.4:c.625A>G	ENSP00000484976.1:p.Ser209Gly
ENST00000617164.4:c.1921A>G	ENSP00000480470.1:p.Ser641Gly
ENST00000619009.4:c.439A>G	ENSP00000482293.1:p.Ser147Gly
ENST00000620057.4:c.*644A>G	ENSP00000481988.1:n.*644A>G
NM_000465.3:c.1978A>G	NP_000456.2:p.Ser660Gly
NM_001282543.1:c.1921A>G	NP_001269472.1:p.Ser641Gly
NM_001282545.1:c.625A>G	NP_001269474.1:p.Ser209Gly
NM_001282548.1:c.568A>G	NP_001269477.1:p.Ser190Gly
NM_001282549.1:c.439A>G	NP_001269478.1:p.Ser147Gly
NR_104212.1:n.1971A>G
NR_104215.1:n.1914A>G
NR_104216.1:n.1170A>G
XM_011511567.1:c.1924A>G	XP_011509869.1:p.Ser642Gly
XM_017004613.1:c.2077A>G	XP_016860102.1:p.Ser693Gly
XR_002959322.1:n.2168A>G
NM_000465.4:c.1978A>G MANE Select	NP_000456.2:p.Ser660Gly
NM_001282543.2:c.1921A>G	NP_001269472.1:p.Ser641Gly
NM_001282545.2:c.625A>G	NP_001269474.1:p.Ser209Gly
NM_001282548.2:c.568A>G	NP_001269477.1:p.Ser190Gly
NM_001282549.2:c.439A>G	NP_001269478.1:p.Ser147Gly
NR_104212.2:n.1943A>G
NR_104215.2:n.1886A>G
NR_104216.2:n.1142A>G