Canonical Allele Identifier: CA10577776

Gene: BARD1

Linked Data

• ClinVar Variation Id: 231202
• ClinVar RCV Id: RCV000213743
• dbSNP Id: rs876659021
• MyVariant Identifiers: chr2:g.215595187T>A (hg19) ; chr2:g.214730463T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730463T>A , CM000664.2:g.214730463T>A	GRCh38
NC_000002.11:g.215595187T>A , CM000664.1:g.215595187T>A	GRCh37
NC_000002.10:g.215303432T>A	NCBI36
NG_012047.2:g.84242A>T
NG_012047.3:g.84249A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1949A>T MANE Select	ENSP00000260947.4:p.Lys650Met
ENST00000421162.2:c.596A>T	ENSP00000392245.2:p.Lys199Met
ENST00000613192.2:c.*12A>T	ENSP00000483275.2:n.*12A>T
ENST00000613374.5:c.539A>T	ENSP00000484464.1:p.Lys180Met
ENST00000613706.5:c.1541A>T	ENSP00000484976.2:p.Lys514Met
ENST00000617164.5:c.1892A>T	ENSP00000480470.1:p.Lys631Met
ENST00000619009.5:c.410A>T	ENSP00000482293.1:p.Lys137Met
ENST00000650978.1:c.3324A>T
ENST00000260947.8:c.1949A>T	ENSP00000260947.4:p.Lys650Met
ENST00000421162.1:c.596A>T	ENSP00000392245.1:p.Lys199Met
ENST00000432456.5:c.46A>T
ENST00000455743.5:c.*1569A>T	ENSP00000412186.1:n.*1569A>T
ENST00000471590.5:n.284A>T
ENST00000613192.1:c.119A>T	ENSP00000483275.1:p.Lys40Met
ENST00000613374.4:c.539A>T	ENSP00000484464.1:p.Lys180Met
ENST00000613706.4:c.596A>T	ENSP00000484976.1:p.Lys199Met
ENST00000617164.4:c.1892A>T	ENSP00000480470.1:p.Lys631Met
ENST00000619009.4:c.410A>T	ENSP00000482293.1:p.Lys137Met
ENST00000620057.4:c.*615A>T	ENSP00000481988.1:n.*615A>T
NM_000465.3:c.1949A>T	NP_000456.2:p.Lys650Met
NM_001282543.1:c.1892A>T	NP_001269472.1:p.Lys631Met
NM_001282545.1:c.596A>T	NP_001269474.1:p.Lys199Met
NM_001282548.1:c.539A>T	NP_001269477.1:p.Lys180Met
NM_001282549.1:c.410A>T	NP_001269478.1:p.Lys137Met
NR_104212.1:n.1942A>T
NR_104215.1:n.1885A>T
NR_104216.1:n.1141A>T
XM_011511567.1:c.1895A>T	XP_011509869.1:p.Lys632Met
XM_017004613.1:c.2048A>T	XP_016860102.1:p.Lys683Met
XR_002959322.1:n.2139A>T
NM_000465.4:c.1949A>T MANE Select	NP_000456.2:p.Lys650Met
NM_001282543.2:c.1892A>T	NP_001269472.1:p.Lys631Met
NM_001282545.2:c.596A>T	NP_001269474.1:p.Lys199Met
NM_001282548.2:c.539A>T	NP_001269477.1:p.Lys180Met
NM_001282549.2:c.410A>T	NP_001269478.1:p.Lys137Met
NR_104212.2:n.1914A>T
NR_104215.2:n.1857A>T
NR_104216.2:n.1113A>T