Canonical Allele Identifier: CA168392

Gene: BARD1

Linked Data

• ClinVar Variation Id: 142451
• ClinVar RCV Id: RCV000131580 ; RCV000206859 ; RCV002284364
• dbSNP Id: rs572554455
• ExAC: 2:215595169 C / T
• gnomAD v2: 2-215595169-C-T
• gnomAD v3: 2-214730445-C-T
• gnomAD v4: 2-214730445-C-T
• MyVariant Identifiers: chr2:g.215595169C>T (hg19) ; chr2:g.214730445C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730445C>T , CM000664.2:g.214730445C>T	GRCh38
NC_000002.11:g.215595169C>T , CM000664.1:g.215595169C>T	GRCh37
NC_000002.10:g.215303414C>T	NCBI36
NG_012047.2:g.84260G>A
NG_012047.3:g.84267G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1967G>A MANE Select	ENSP00000260947.4:p.Gly656Asp
ENST00000421162.2:c.614G>A	ENSP00000392245.2:p.Gly205Asp
ENST00000613192.2:c.*30G>A	ENSP00000483275.2:n.*30G>A
ENST00000613374.5:c.557G>A	ENSP00000484464.1:p.Gly186Asp
ENST00000613706.5:c.1559G>A	ENSP00000484976.2:p.Gly520Asp
ENST00000617164.5:c.1910G>A	ENSP00000480470.1:p.Gly637Asp
ENST00000619009.5:c.428G>A	ENSP00000482293.1:p.Gly143Asp
ENST00000650978.1:c.3342G>A
ENST00000260947.8:c.1967G>A	ENSP00000260947.4:p.Gly656Asp
ENST00000421162.1:c.614G>A	ENSP00000392245.1:p.Gly205Asp
ENST00000432456.5:c.64G>A
ENST00000455743.5:c.*1587G>A	ENSP00000412186.1:n.*1587G>A
ENST00000471590.5:n.302G>A
ENST00000613192.1:c.137G>A	ENSP00000483275.1:p.Gly46Asp
ENST00000613374.4:c.557G>A	ENSP00000484464.1:p.Gly186Asp
ENST00000613706.4:c.614G>A	ENSP00000484976.1:p.Gly205Asp
ENST00000617164.4:c.1910G>A	ENSP00000480470.1:p.Gly637Asp
ENST00000619009.4:c.428G>A	ENSP00000482293.1:p.Gly143Asp
ENST00000620057.4:c.*633G>A	ENSP00000481988.1:n.*633G>A
NM_000465.3:c.1967G>A	NP_000456.2:p.Gly656Asp
NM_001282543.1:c.1910G>A	NP_001269472.1:p.Gly637Asp
NM_001282545.1:c.614G>A	NP_001269474.1:p.Gly205Asp
NM_001282548.1:c.557G>A	NP_001269477.1:p.Gly186Asp
NM_001282549.1:c.428G>A	NP_001269478.1:p.Gly143Asp
NR_104212.1:n.1960G>A
NR_104215.1:n.1903G>A
NR_104216.1:n.1159G>A
XM_011511567.1:c.1913G>A	XP_011509869.1:p.Gly638Asp
XM_017004613.1:c.2066G>A	XP_016860102.1:p.Gly689Asp
XR_002959322.1:n.2157G>A
NM_000465.4:c.1967G>A MANE Select	NP_000456.2:p.Gly656Asp
NM_001282543.2:c.1910G>A	NP_001269472.1:p.Gly637Asp
NM_001282545.2:c.614G>A	NP_001269474.1:p.Gly205Asp
NM_001282548.2:c.557G>A	NP_001269477.1:p.Gly186Asp
NM_001282549.2:c.428G>A	NP_001269478.1:p.Gly143Asp
NR_104212.2:n.1932G>A
NR_104215.2:n.1875G>A
NR_104216.2:n.1131G>A