Canonical Allele Identifier: CA10584175

Gene: BARD1

Linked Data

• ClinVar Variation Id: 246505
• ClinVar RCV Id: RCV000235725 ; RCV003317173
• dbSNP Id: rs879254291
• MyVariant Identifiers: chr2:g.215610484A>T (hg19) ; chr2:g.214745760A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745760A>T , CM000664.2:g.214745760A>T	GRCh38
NC_000002.11:g.215610484A>T , CM000664.1:g.215610484A>T	GRCh37
NC_000002.10:g.215318729A>T	NCBI36
NG_012047.2:g.68945T>A
NG_012047.3:g.68952T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1772T>A MANE Select	ENSP00000260947.4:p.Ile591Asn
ENST00000421162.2:c.419T>A	ENSP00000392245.2:p.Ile140Asn
ENST00000613192.2:c.159-15252T>A	ENSP00000483275.2:n.159-15252T>A
ENST00000613374.5:c.362T>A	ENSP00000484464.1:p.Ile121Asn
ENST00000613706.5:c.1364T>A	ENSP00000484976.2:p.Ile455Asn
ENST00000617164.5:c.1715T>A	ENSP00000480470.1:p.Ile572Asn
ENST00000619009.5:c.365-15252T>A	ENSP00000482293.1:n.365-15252T>A
ENST00000650978.1:c.3147T>A
ENST00000260947.8:c.1772T>A	ENSP00000260947.4:p.Ile591Asn
ENST00000421162.1:c.419T>A	ENSP00000392245.1:p.Ile140Asn
ENST00000455743.5:c.*1392T>A	ENSP00000412186.1:n.*1392T>A
ENST00000465841.1:n.127T>A
ENST00000613192.1:c.74-15252T>A	ENSP00000483275.1:n.74-15252T>A
ENST00000613374.4:c.362T>A	ENSP00000484464.1:p.Ile121Asn
ENST00000613706.4:c.419T>A	ENSP00000484976.1:p.Ile140Asn
ENST00000617164.4:c.1715T>A	ENSP00000480470.1:p.Ile572Asn
ENST00000619009.4:c.365-15252T>A	ENSP00000482293.1:n.365-15252T>A
ENST00000620057.4:c.*438T>A	ENSP00000481988.1:n.*438T>A
NM_000465.3:c.1772T>A	NP_000456.2:p.Ile591Asn
NM_001282543.1:c.1715T>A	NP_001269472.1:p.Ile572Asn
NM_001282545.1:c.419T>A	NP_001269474.1:p.Ile140Asn
NM_001282548.1:c.362T>A	NP_001269477.1:p.Ile121Asn
NM_001282549.1:c.365-15252T>A	NP_001269478.1:n.365-15252T>A
NR_104212.1:n.1765T>A
NR_104215.1:n.1708T>A
NR_104216.1:n.964T>A
XM_011511567.1:c.1718T>A	XP_011509869.1:p.Ile573Asn
XM_011511568.1:c.1772T>A	XP_011509870.1:p.Ile591Asn
XM_017004613.1:c.1871T>A	XP_016860102.1:p.Ile624Asn
XM_017004614.1:c.1871T>A	XP_016860103.1:p.Ile624Asn
XR_002959322.1:n.1962T>A
NM_000465.4:c.1772T>A MANE Select	NP_000456.2:p.Ile591Asn
NM_001282543.2:c.1715T>A	NP_001269472.1:p.Ile572Asn
NM_001282545.2:c.419T>A	NP_001269474.1:p.Ile140Asn
NM_001282548.2:c.362T>A	NP_001269477.1:p.Ile121Asn
NM_001282549.2:c.365-15252T>A	NP_001269478.1:n.365-15252T>A
NR_104212.2:n.1737T>A
NR_104215.2:n.1680T>A
NR_104216.2:n.936T>A