Canonical Allele Identifier: CA2090049

Gene: BARD1

Linked Data

• ClinVar Variation Id: 387618
• ClinVar RCV Id: RCV001525427 ; RCV002522379
• dbSNP Id: rs762887239
• ExAC: 2:215593421 C / T
• gnomAD v2: 2-215593421-C-T
• gnomAD v4: 2-214728697-C-T
• MyVariant Identifiers: chr2:g.215593421C>T (hg19) ; chr2:g.214728697C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728697C>T , CM000664.2:g.214728697C>T	GRCh38
NC_000002.11:g.215593421C>T , CM000664.1:g.215593421C>T	GRCh37
NC_000002.10:g.215301666C>T	NCBI36
NG_012047.2:g.86008G>A
NG_012047.3:g.86015G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.2313G>A MANE Select	ENSP00000260947.4:p.Glu771=
ENST00000421162.2:c.960G>A	ENSP00000392245.2:p.Glu320=
ENST00000613192.2:c.*376G>A	ENSP00000483275.2:n.*376G>A
ENST00000613374.5:c.903G>A	ENSP00000484464.1:p.Glu301=
ENST00000613706.5:c.1905G>A	ENSP00000484976.2:p.Glu635=
ENST00000617164.5:c.2256G>A	ENSP00000480470.1:p.Glu752=
ENST00000619009.5:c.774G>A	ENSP00000482293.1:p.Glu258=
ENST00000650978.1:c.3688G>A
ENST00000260947.8:c.2313G>A	ENSP00000260947.4:p.Glu771=
ENST00000432456.5:c.456G>A
ENST00000471590.5:n.648G>A
ENST00000613192.1:c.483G>A	ENSP00000483275.1:p.Glu161=
ENST00000613374.4:c.903G>A	ENSP00000484464.1:p.Glu301=
ENST00000613706.4:c.960G>A	ENSP00000484976.1:p.Glu320=
ENST00000617164.4:c.2256G>A	ENSP00000480470.1:p.Glu752=
ENST00000619009.4:c.774G>A	ENSP00000482293.1:p.Glu258=
ENST00000620057.4:c.*979G>A	ENSP00000481988.1:n.*979G>A
NM_000465.3:c.2313G>A	NP_000456.2:p.Glu771=
NM_001282543.1:c.2256G>A	NP_001269472.1:p.Glu752=
NM_001282545.1:c.960G>A	NP_001269474.1:p.Glu320=
NM_001282548.1:c.903G>A	NP_001269477.1:p.Glu301=
NM_001282549.1:c.774G>A	NP_001269478.1:p.Glu258=
NR_104212.1:n.2306G>A
NR_104215.1:n.2249G>A
NR_104216.1:n.1505G>A
XM_011511567.1:c.2259G>A	XP_011509869.1:p.Glu753=
XM_017004613.1:c.2412G>A	XP_016860102.1:p.Glu804=
XR_002959322.1:n.2679G>A
NM_000465.4:c.2313G>A MANE Select	NP_000456.2:p.Glu771=
NM_001282543.2:c.2256G>A	NP_001269472.1:p.Glu752=
NM_001282545.2:c.960G>A	NP_001269474.1:p.Glu320=
NM_001282548.2:c.903G>A	NP_001269477.1:p.Glu301=
NM_001282549.2:c.774G>A	NP_001269478.1:p.Glu258=
NR_104212.2:n.2278G>A
NR_104215.2:n.2221G>A
NR_104216.2:n.1477G>A