Canonical Allele Identifier: CA350449938

Gene: BARD1

Linked Data

• ClinVar Variation Id: 485326
• ClinVar RCV Id: RCV000565295 ; RCV001317844
• dbSNP Id: rs1318628468
• gnomAD v2: 2-215593459-G-C
• gnomAD v4: 2-214728735-G-C
• MyVariant Identifiers: chr2:g.215593459G>C (hg19) ; chr2:g.214728735G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728735G>C , CM000664.2:g.214728735G>C	GRCh38
NC_000002.11:g.215593459G>C , CM000664.1:g.215593459G>C	GRCh37
NC_000002.10:g.215301704G>C	NCBI36
NG_012047.2:g.85970C>G
NG_012047.3:g.85977C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2275C>G MANE Select	ENSP00000260947.4:p.Pro759Ala
ENST00000421162.2:c.922C>G	ENSP00000392245.2:p.Pro308Ala
ENST00000613192.2:c.*338C>G	ENSP00000483275.2:n.*338C>G
ENST00000613374.5:c.865C>G	ENSP00000484464.1:p.Pro289Ala
ENST00000613706.5:c.1867C>G	ENSP00000484976.2:p.Pro623Ala
ENST00000617164.5:c.2218C>G	ENSP00000480470.1:p.Pro740Ala
ENST00000619009.5:c.736C>G	ENSP00000482293.1:p.Pro246Ala
ENST00000650978.1:c.3650C>G
ENST00000260947.8:c.2275C>G	ENSP00000260947.4:p.Pro759Ala
ENST00000432456.5:c.418C>G
ENST00000455743.5:c.*1895C>G	ENSP00000412186.1:n.*1895C>G
ENST00000471590.5:n.610C>G
ENST00000613192.1:c.445C>G	ENSP00000483275.1:p.Pro149Ala
ENST00000613374.4:c.865C>G	ENSP00000484464.1:p.Pro289Ala
ENST00000613706.4:c.922C>G	ENSP00000484976.1:p.Pro308Ala
ENST00000617164.4:c.2218C>G	ENSP00000480470.1:p.Pro740Ala
ENST00000619009.4:c.736C>G	ENSP00000482293.1:p.Pro246Ala
ENST00000620057.4:c.*941C>G	ENSP00000481988.1:n.*941C>G
NM_000465.3:c.2275C>G	NP_000456.2:p.Pro759Ala
NM_001282543.1:c.2218C>G	NP_001269472.1:p.Pro740Ala
NM_001282545.1:c.922C>G	NP_001269474.1:p.Pro308Ala
NM_001282548.1:c.865C>G	NP_001269477.1:p.Pro289Ala
NM_001282549.1:c.736C>G	NP_001269478.1:p.Pro246Ala
NR_104212.1:n.2268C>G
NR_104215.1:n.2211C>G
NR_104216.1:n.1467C>G
XM_011511567.1:c.2221C>G	XP_011509869.1:p.Pro741Ala
XM_017004613.1:c.2374C>G	XP_016860102.1:p.Pro792Ala
XR_002959322.1:n.2641C>G
NM_000465.4:c.2275C>G MANE Select	NP_000456.2:p.Pro759Ala
NM_001282543.2:c.2218C>G	NP_001269472.1:p.Pro740Ala
NM_001282545.2:c.922C>G	NP_001269474.1:p.Pro308Ala
NM_001282548.2:c.865C>G	NP_001269477.1:p.Pro289Ala
NM_001282549.2:c.736C>G	NP_001269478.1:p.Pro246Ala
NR_104212.2:n.2240C>G
NR_104215.2:n.2183C>G
NR_104216.2:n.1439C>G