Canonical Allele Identifier: CA350452045

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1057449
• ClinVar RCV Id: RCV001366434
• dbSNP Id: rs1693033615
• MyVariant Identifiers: chr2:g.215609791A>T (hg19) ; chr2:g.214745067A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745067A>T , CM000664.2:g.214745067A>T	GRCh38
NC_000002.11:g.215609791A>T , CM000664.1:g.215609791A>T	GRCh37
NC_000002.10:g.215318036A>T	NCBI36
NG_012047.2:g.69638T>A
NG_012047.3:g.69645T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1903T>A MANE Select	ENSP00000260947.4:p.Trp635Arg
ENST00000421162.2:c.550T>A	ENSP00000392245.2:p.Trp184Arg
ENST00000613192.2:c.159-14559T>A	ENSP00000483275.2:n.159-14559T>A
ENST00000613374.5:c.493T>A	ENSP00000484464.1:p.Trp165Arg
ENST00000613706.5:c.1495T>A	ENSP00000484976.2:p.Trp499Arg
ENST00000617164.5:c.1846T>A	ENSP00000480470.1:p.Trp616Arg
ENST00000619009.5:c.365-14559T>A	ENSP00000482293.1:n.365-14559T>A
ENST00000650978.1:c.3278T>A
ENST00000260947.8:c.1903T>A	ENSP00000260947.4:p.Trp635Arg
ENST00000421162.1:c.550T>A	ENSP00000392245.1:p.Trp184Arg
ENST00000455743.5:c.*1523T>A	ENSP00000412186.1:n.*1523T>A
ENST00000613192.1:c.74-14559T>A	ENSP00000483275.1:n.74-14559T>A
ENST00000613374.4:c.493T>A	ENSP00000484464.1:p.Trp165Arg
ENST00000613706.4:c.550T>A	ENSP00000484976.1:p.Trp184Arg
ENST00000617164.4:c.1846T>A	ENSP00000480470.1:p.Trp616Arg
ENST00000619009.4:c.365-14559T>A	ENSP00000482293.1:n.365-14559T>A
ENST00000620057.4:c.*569T>A	ENSP00000481988.1:n.*569T>A
NM_000465.3:c.1903T>A	NP_000456.2:p.Trp635Arg
NM_001282543.1:c.1846T>A	NP_001269472.1:p.Trp616Arg
NM_001282545.1:c.550T>A	NP_001269474.1:p.Trp184Arg
NM_001282548.1:c.493T>A	NP_001269477.1:p.Trp165Arg
NM_001282549.1:c.365-14559T>A	NP_001269478.1:n.365-14559T>A
NR_104212.1:n.1896T>A
NR_104215.1:n.1839T>A
NR_104216.1:n.1095T>A
XM_011511567.1:c.1849T>A	XP_011509869.1:p.Trp617Arg
XM_011511568.1:c.1903T>A	XP_011509870.1:p.Cys635Ser
XM_017004613.1:c.2002T>A	XP_016860102.1:p.Trp668Arg
XM_017004614.1:c.2002T>A	XP_016860103.1:p.Cys668Ser
XR_002959322.1:n.2093T>A
NM_000465.4:c.1903T>A MANE Select	NP_000456.2:p.Trp635Arg
NM_001282543.2:c.1846T>A	NP_001269472.1:p.Trp616Arg
NM_001282545.2:c.550T>A	NP_001269474.1:p.Trp184Arg
NM_001282548.2:c.493T>A	NP_001269477.1:p.Trp165Arg
NM_001282549.2:c.365-14559T>A	NP_001269478.1:n.365-14559T>A
NR_104212.2:n.1868T>A
NR_104215.2:n.1811T>A
NR_104216.2:n.1067T>A