Canonical Allele Identifier: CA350452210

Gene: BARD1

Linked Data

• ClinVar Variation Id: 629131
• ClinVar RCV Id: RCV000773821 ; RCV000791905
• dbSNP Id: rs1559386134
• MyVariant Identifiers: chr2:g.215609842A>T (hg19) ; chr2:g.214745118A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745118A>T , CM000664.2:g.214745118A>T	GRCh38
NC_000002.11:g.215609842A>T , CM000664.1:g.215609842A>T	GRCh37
NC_000002.10:g.215318087A>T	NCBI36
NG_012047.2:g.69587T>A
NG_012047.3:g.69594T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1852T>A MANE Select	ENSP00000260947.4:p.Leu618Met
ENST00000421162.2:c.499T>A	ENSP00000392245.2:p.Leu167Met
ENST00000613192.2:c.159-14610T>A	ENSP00000483275.2:n.159-14610T>A
ENST00000613374.5:c.442T>A	ENSP00000484464.1:p.Leu148Met
ENST00000613706.5:c.1444T>A	ENSP00000484976.2:p.Leu482Met
ENST00000617164.5:c.1795T>A	ENSP00000480470.1:p.Leu599Met
ENST00000619009.5:c.365-14610T>A	ENSP00000482293.1:n.365-14610T>A
ENST00000650978.1:c.3227T>A
ENST00000260947.8:c.1852T>A	ENSP00000260947.4:p.Leu618Met
ENST00000421162.1:c.499T>A	ENSP00000392245.1:p.Leu167Met
ENST00000455743.5:c.*1472T>A	ENSP00000412186.1:n.*1472T>A
ENST00000613192.1:c.74-14610T>A	ENSP00000483275.1:n.74-14610T>A
ENST00000613374.4:c.442T>A	ENSP00000484464.1:p.Leu148Met
ENST00000613706.4:c.499T>A	ENSP00000484976.1:p.Leu167Met
ENST00000617164.4:c.1795T>A	ENSP00000480470.1:p.Leu599Met
ENST00000619009.4:c.365-14610T>A	ENSP00000482293.1:n.365-14610T>A
ENST00000620057.4:c.*518T>A	ENSP00000481988.1:n.*518T>A
NM_000465.3:c.1852T>A	NP_000456.2:p.Leu618Met
NM_001282543.1:c.1795T>A	NP_001269472.1:p.Leu599Met
NM_001282545.1:c.499T>A	NP_001269474.1:p.Leu167Met
NM_001282548.1:c.442T>A	NP_001269477.1:p.Leu148Met
NM_001282549.1:c.365-14610T>A	NP_001269478.1:n.365-14610T>A
NR_104212.1:n.1845T>A
NR_104215.1:n.1788T>A
NR_104216.1:n.1044T>A
XM_011511567.1:c.1798T>A	XP_011509869.1:p.Leu600Met
XM_011511568.1:c.1852T>A	XP_011509870.1:p.Leu618Met
XM_017004613.1:c.1951T>A	XP_016860102.1:p.Leu651Met
XM_017004614.1:c.1951T>A	XP_016860103.1:p.Leu651Met
XR_002959322.1:n.2042T>A
NM_000465.4:c.1852T>A MANE Select	NP_000456.2:p.Leu618Met
NM_001282543.2:c.1795T>A	NP_001269472.1:p.Leu599Met
NM_001282545.2:c.499T>A	NP_001269474.1:p.Leu167Met
NM_001282548.2:c.442T>A	NP_001269477.1:p.Leu148Met
NM_001282549.2:c.365-14610T>A	NP_001269478.1:n.365-14610T>A
NR_104212.2:n.1817T>A
NR_104215.2:n.1760T>A
NR_104216.2:n.1016T>A