Canonical Allele Identifier: CA350452193

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1982347
• ClinVar RCV Id: RCV002766707
• MyVariant Identifiers: chr2:g.215609840C>G (hg19) ; chr2:g.214745116C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745116C>G , CM000664.2:g.214745116C>G	GRCh38
NC_000002.11:g.215609840C>G , CM000664.1:g.215609840C>G	GRCh37
NC_000002.10:g.215318085C>G	NCBI36
NG_012047.2:g.69589G>C
NG_012047.3:g.69596G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1854G>C MANE Select	ENSP00000260947.4:p.Leu618Phe
ENST00000421162.2:c.501G>C	ENSP00000392245.2:p.Leu167Phe
ENST00000613192.2:c.159-14608G>C	ENSP00000483275.2:n.159-14608G>C
ENST00000613374.5:c.444G>C	ENSP00000484464.1:p.Leu148Phe
ENST00000613706.5:c.1446G>C	ENSP00000484976.2:p.Leu482Phe
ENST00000617164.5:c.1797G>C	ENSP00000480470.1:p.Leu599Phe
ENST00000619009.5:c.365-14608G>C	ENSP00000482293.1:n.365-14608G>C
ENST00000650978.1:c.3229G>C
ENST00000260947.8:c.1854G>C	ENSP00000260947.4:p.Leu618Phe
ENST00000421162.1:c.501G>C	ENSP00000392245.1:p.Leu167Phe
ENST00000455743.5:c.*1474G>C	ENSP00000412186.1:n.*1474G>C
ENST00000613192.1:c.74-14608G>C	ENSP00000483275.1:n.74-14608G>C
ENST00000613374.4:c.444G>C	ENSP00000484464.1:p.Leu148Phe
ENST00000613706.4:c.501G>C	ENSP00000484976.1:p.Leu167Phe
ENST00000617164.4:c.1797G>C	ENSP00000480470.1:p.Leu599Phe
ENST00000619009.4:c.365-14608G>C	ENSP00000482293.1:n.365-14608G>C
ENST00000620057.4:c.*520G>C	ENSP00000481988.1:n.*520G>C
NM_000465.3:c.1854G>C	NP_000456.2:p.Leu618Phe
NM_001282543.1:c.1797G>C	NP_001269472.1:p.Leu599Phe
NM_001282545.1:c.501G>C	NP_001269474.1:p.Leu167Phe
NM_001282548.1:c.444G>C	NP_001269477.1:p.Leu148Phe
NM_001282549.1:c.365-14608G>C	NP_001269478.1:n.365-14608G>C
NR_104212.1:n.1847G>C
NR_104215.1:n.1790G>C
NR_104216.1:n.1046G>C
XM_011511567.1:c.1800G>C	XP_011509869.1:p.Leu600Phe
XM_011511568.1:c.1854G>C	XP_011509870.1:p.Leu618Phe
XM_017004613.1:c.1953G>C	XP_016860102.1:p.Leu651Phe
XM_017004614.1:c.1953G>C	XP_016860103.1:p.Leu651Phe
XR_002959322.1:n.2044G>C
NM_000465.4:c.1854G>C MANE Select	NP_000456.2:p.Leu618Phe
NM_001282543.2:c.1797G>C	NP_001269472.1:p.Leu599Phe
NM_001282545.2:c.501G>C	NP_001269474.1:p.Leu167Phe
NM_001282548.2:c.444G>C	NP_001269477.1:p.Leu148Phe
NM_001282549.2:c.365-14608G>C	NP_001269478.1:n.365-14608G>C
NR_104212.2:n.1819G>C
NR_104215.2:n.1762G>C
NR_104216.2:n.1018G>C