Canonical Allele Identifier: CA64802956

Gene: BARD1

Linked Data

• ClinVar Variation Id: 490947
• ClinVar RCV Id: RCV000583657
• dbSNP Id: rs863224364
• MyVariant Identifiers: chr2:g.215610525C>G (hg19) ; chr2:g.214745801C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745801C>G , CM000664.2:g.214745801C>G	GRCh38
NC_000002.11:g.215610525C>G , CM000664.1:g.215610525C>G	GRCh37
NC_000002.10:g.215318770C>G	NCBI36
NG_012047.2:g.68904G>C
NG_012047.3:g.68911G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1731G>C MANE Select	ENSP00000260947.4:p.Leu577=
ENST00000421162.2:c.378G>C	ENSP00000392245.2:p.Leu126=
ENST00000613192.2:c.159-15293G>C	ENSP00000483275.2:n.159-15293G>C
ENST00000613374.5:c.321G>C	ENSP00000484464.1:p.Leu107=
ENST00000613706.5:c.1323G>C	ENSP00000484976.2:p.Leu441=
ENST00000617164.5:c.1674G>C	ENSP00000480470.1:p.Leu558=
ENST00000619009.5:c.365-15293G>C	ENSP00000482293.1:n.365-15293G>C
ENST00000650978.1:c.3106G>C
ENST00000260947.8:c.1731G>C	ENSP00000260947.4:p.Leu577=
ENST00000421162.1:c.378G>C	ENSP00000392245.1:p.Leu126=
ENST00000455743.5:c.*1351G>C	ENSP00000412186.1:n.*1351G>C
ENST00000465841.1:n.86G>C
ENST00000613192.1:c.74-15293G>C	ENSP00000483275.1:n.74-15293G>C
ENST00000613374.4:c.321G>C	ENSP00000484464.1:p.Leu107=
ENST00000613706.4:c.378G>C	ENSP00000484976.1:p.Leu126=
ENST00000617164.4:c.1674G>C	ENSP00000480470.1:p.Leu558=
ENST00000619009.4:c.365-15293G>C	ENSP00000482293.1:n.365-15293G>C
ENST00000620057.4:c.*397G>C	ENSP00000481988.1:n.*397G>C
NM_000465.3:c.1731G>C	NP_000456.2:p.Leu577=
NM_001282543.1:c.1674G>C	NP_001269472.1:p.Leu558=
NM_001282545.1:c.378G>C	NP_001269474.1:p.Leu126=
NM_001282548.1:c.321G>C	NP_001269477.1:p.Leu107=
NM_001282549.1:c.365-15293G>C	NP_001269478.1:n.365-15293G>C
NR_104212.1:n.1724G>C
NR_104215.1:n.1667G>C
NR_104216.1:n.923G>C
XM_011511567.1:c.1677G>C	XP_011509869.1:p.Leu559=
XM_011511568.1:c.1731G>C	XP_011509870.1:p.Leu577=
XM_017004613.1:c.1830G>C	XP_016860102.1:p.Leu610=
XM_017004614.1:c.1830G>C	XP_016860103.1:p.Leu610=
XR_002959322.1:n.1921G>C
NM_000465.4:c.1731G>C MANE Select	NP_000456.2:p.Leu577=
NM_001282543.2:c.1674G>C	NP_001269472.1:p.Leu558=
NM_001282545.2:c.378G>C	NP_001269474.1:p.Leu126=
NM_001282548.2:c.321G>C	NP_001269477.1:p.Leu107=
NM_001282549.2:c.365-15293G>C	NP_001269478.1:n.365-15293G>C
NR_104212.2:n.1696G>C
NR_104215.2:n.1639G>C
NR_104216.2:n.895G>C