Canonical Allele Identifier: CA431139279

Gene: BARD1

Linked Data

• dbSNP Id: rs1060504194
• gnomAD v2: 2-215595177-A-T
• MyVariant Identifiers: chr2:g.215595177A>T (hg19) ; chr2:g.214730453A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730453A>T , CM000664.2:g.214730453A>T	GRCh38
NC_000002.11:g.215595177A>T , CM000664.1:g.215595177A>T	GRCh37
NC_000002.10:g.215303422A>T	NCBI36
NG_012047.2:g.84252T>A
NG_012047.3:g.84259T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1959T>A MANE Select	ENSP00000260947.4:p.Ile653=
ENST00000421162.2:c.606T>A	ENSP00000392245.2:p.Ile202=
ENST00000613192.2:c.*22T>A	ENSP00000483275.2:n.*22T>A
ENST00000613374.5:c.549T>A	ENSP00000484464.1:p.Ile183=
ENST00000613706.5:c.1551T>A	ENSP00000484976.2:p.Ile517=
ENST00000617164.5:c.1902T>A	ENSP00000480470.1:p.Ile634=
ENST00000619009.5:c.420T>A	ENSP00000482293.1:p.Ile140=
ENST00000650978.1:c.3334T>A
ENST00000260947.8:c.1959T>A	ENSP00000260947.4:p.Ile653=
ENST00000421162.1:c.606T>A	ENSP00000392245.1:p.Ile202=
ENST00000432456.5:c.56T>A
ENST00000455743.5:c.*1579T>A	ENSP00000412186.1:n.*1579T>A
ENST00000471590.5:n.294T>A
ENST00000613192.1:c.129T>A	ENSP00000483275.1:p.Ile43=
ENST00000613374.4:c.549T>A	ENSP00000484464.1:p.Ile183=
ENST00000613706.4:c.606T>A	ENSP00000484976.1:p.Ile202=
ENST00000617164.4:c.1902T>A	ENSP00000480470.1:p.Ile634=
ENST00000619009.4:c.420T>A	ENSP00000482293.1:p.Ile140=
ENST00000620057.4:c.*625T>A	ENSP00000481988.1:n.*625T>A
NM_000465.3:c.1959T>A	NP_000456.2:p.Ile653=
NM_001282543.1:c.1902T>A	NP_001269472.1:p.Ile634=
NM_001282545.1:c.606T>A	NP_001269474.1:p.Ile202=
NM_001282548.1:c.549T>A	NP_001269477.1:p.Ile183=
NM_001282549.1:c.420T>A	NP_001269478.1:p.Ile140=
NR_104212.1:n.1952T>A
NR_104215.1:n.1895T>A
NR_104216.1:n.1151T>A
XM_011511567.1:c.1905T>A	XP_011509869.1:p.Ile635=
XM_017004613.1:c.2058T>A	XP_016860102.1:p.Ile686=
XR_002959322.1:n.2149T>A
NM_000465.4:c.1959T>A MANE Select	NP_000456.2:p.Ile653=
NM_001282543.2:c.1902T>A	NP_001269472.1:p.Ile634=
NM_001282545.2:c.606T>A	NP_001269474.1:p.Ile202=
NM_001282548.2:c.549T>A	NP_001269477.1:p.Ile183=
NM_001282549.2:c.420T>A	NP_001269478.1:p.Ile140=
NR_104212.2:n.1924T>A
NR_104215.2:n.1867T>A
NR_104216.2:n.1123T>A