Canonical Allele Identifier: CA2090269

Gene: BARD1

Linked Data

• ClinVar Variation Id: 629878
• ClinVar RCV Id: RCV002534152
• dbSNP Id: rs781216748
• ExAC: 2:215633942 A / C
• gnomAD v2: 2-215633942-A-C
• gnomAD v4: 2-214769218-A-C
• MyVariant Identifiers: chr2:g.215633942A>C (hg19) ; chr2:g.214769218A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214769218A>C , CM000664.2:g.214769218A>C	GRCh38
NC_000002.11:g.215633942A>C , CM000664.1:g.215633942A>C	GRCh37
NC_000002.10:g.215342187A>C	NCBI36
NG_012047.2:g.45487T>G
NG_012047.3:g.45494T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1395+14T>G MANE Select	ENSP00000260947.4:n.1395+14T>G
ENST00000421162.2:c.216-16663T>G	ENSP00000392245.2:n.216-16663T>G
ENST00000613192.2:c.159-38710T>G	ENSP00000483275.2:n.159-38710T>G
ENST00000613374.5:c.159-16663T>G	ENSP00000484464.1:n.159-16663T>G
ENST00000613706.5:c.987+14T>G	ENSP00000484976.2:n.987+14T>G
ENST00000617164.5:c.1338+14T>G	ENSP00000480470.1:n.1338+14T>G
ENST00000619009.5:c.364+23079T>G	ENSP00000482293.1:n.364+23079T>G
ENST00000650978.1:c.2770+14T>G
ENST00000260947.8:c.1395+14T>G	ENSP00000260947.4:n.1395+14T>G
ENST00000421162.1:c.216-16663T>G	ENSP00000392245.1:n.216-16663T>G
ENST00000455743.5:c.*1015+14T>G	ENSP00000412186.1:n.*1015+14T>G
ENST00000613192.1:c.74-38710T>G	ENSP00000483275.1:n.74-38710T>G
ENST00000613374.4:c.159-16663T>G	ENSP00000484464.1:n.159-16663T>G
ENST00000613706.4:c.216-16663T>G	ENSP00000484976.1:n.216-16663T>G
ENST00000617164.4:c.1338+14T>G	ENSP00000480470.1:n.1338+14T>G
ENST00000619009.4:c.364+23079T>G	ENSP00000482293.1:n.364+23079T>G
ENST00000620057.4:c.*61+14T>G	ENSP00000481988.1:n.*61+14T>G
NM_000465.3:c.1395+14T>G	NP_000456.2:n.1395+14T>G
NM_001282543.1:c.1338+14T>G	NP_001269472.1:n.1338+14T>G
NM_001282545.1:c.216-16663T>G	NP_001269474.1:n.216-16663T>G
NM_001282548.1:c.159-16663T>G	NP_001269477.1:n.159-16663T>G
NM_001282549.1:c.364+23079T>G	NP_001269478.1:n.364+23079T>G
NR_104212.1:n.1388+14T>G
NR_104215.1:n.1331+14T>G
NR_104216.1:n.587+14T>G
XM_011511567.1:c.1341+14T>G	XP_011509869.1:n.1341+14T>G
XM_011511568.1:c.1395+14T>G	XP_011509870.1:n.1395+14T>G
XM_017004613.1:c.1494+14T>G	XP_016860102.1:n.1494+14T>G
XM_017004614.1:c.1494+14T>G	XP_016860103.1:n.1494+14T>G
XR_002959322.1:n.1585+14T>G
NM_000465.4:c.1395+14T>G MANE Select	NP_000456.2:n.1395+14T>G
NM_001282543.2:c.1338+14T>G	NP_001269472.1:n.1338+14T>G
NM_001282545.2:c.216-16663T>G	NP_001269474.1:n.216-16663T>G
NM_001282548.2:c.159-16663T>G	NP_001269477.1:n.159-16663T>G
NM_001282549.2:c.364+23079T>G	NP_001269478.1:n.364+23079T>G
NR_104212.2:n.1360+14T>G
NR_104215.2:n.1303+14T>G
NR_104216.2:n.559+14T>G