Canonical Allele Identifier: CA350455053

Gene: BARD1

Linked Data

• ClinVar Variation Id: 530093
• ClinVar RCV Id: RCV000635730 ; RCV000773232
• dbSNP Id: rs1407053508
• gnomAD v2: 2-215645676-G-C
• gnomAD v3: 2-214780952-G-C
• gnomAD v4: 2-214780952-G-C
• MyVariant Identifiers: chr2:g.215645676G>C (hg19) ; chr2:g.214780952G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780952G>C , CM000664.2:g.214780952G>C	GRCh38
NC_000002.11:g.215645676G>C , CM000664.1:g.215645676G>C	GRCh37
NC_000002.10:g.215353921G>C	NCBI36
NG_012047.2:g.33753C>G
NG_012047.3:g.33760C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.922C>G MANE Select	ENSP00000260947.4:p.Leu308Val
ENST00000421162.2:c.215+16109C>G	ENSP00000392245.2:n.215+16109C>G
ENST00000613192.2:c.158+28460C>G	ENSP00000483275.2:n.158+28460C>G
ENST00000613374.5:c.159-28397C>G	ENSP00000484464.1:n.159-28397C>G
ENST00000613706.5:c.906+16C>G	ENSP00000484976.2:n.906+16C>G
ENST00000617164.5:c.865C>G	ENSP00000480470.1:p.Leu289Val
ENST00000619009.5:c.364+11345C>G	ENSP00000482293.1:n.364+11345C>G
ENST00000650978.1:c.764C>G
ENST00000260947.8:c.922C>G	ENSP00000260947.4:p.Leu308Val
ENST00000421162.1:c.215+16109C>G	ENSP00000392245.1:n.215+16109C>G
ENST00000455743.5:c.*542C>G	ENSP00000412186.1:n.*542C>G
ENST00000471787.1:n.817C>G
ENST00000613192.1:c.73+28460C>G	ENSP00000483275.1:n.73+28460C>G
ENST00000613374.4:c.159-28397C>G	ENSP00000484464.1:n.159-28397C>G
ENST00000613706.4:c.215+16109C>G	ENSP00000484976.1:n.215+16109C>G
ENST00000617164.4:c.865C>G	ENSP00000480470.1:p.Leu289Val
ENST00000619009.4:c.364+11345C>G	ENSP00000482293.1:n.364+11345C>G
ENST00000620057.4:c.364+11345C>G	ENSP00000481988.1:n.364+11345C>G
NM_000465.3:c.922C>G	NP_000456.2:p.Leu308Val
NM_001282543.1:c.865C>G	NP_001269472.1:p.Leu289Val
NM_001282545.1:c.215+16109C>G	NP_001269474.1:n.215+16109C>G
NM_001282548.1:c.159-28397C>G	NP_001269477.1:n.159-28397C>G
NM_001282549.1:c.364+11345C>G	NP_001269478.1:n.364+11345C>G
NR_104212.1:n.915C>G
NR_104215.1:n.858C>G
NR_104216.1:n.506+11345C>G
XM_011511567.1:c.868C>G	XP_011509869.1:p.Leu290Val
XM_011511568.1:c.922C>G	XP_011509870.1:p.Leu308Val
XM_017004613.1:c.1021C>G	XP_016860102.1:p.Leu341Val
XM_017004614.1:c.1021C>G	XP_016860103.1:p.Leu341Val
XR_002959322.1:n.1112C>G
NM_000465.4:c.922C>G MANE Select	NP_000456.2:p.Leu308Val
NM_001282543.2:c.865C>G	NP_001269472.1:p.Leu289Val
NM_001282545.2:c.215+16109C>G	NP_001269474.1:n.215+16109C>G
NM_001282548.2:c.159-28397C>G	NP_001269477.1:n.159-28397C>G
NM_001282549.2:c.364+11345C>G	NP_001269478.1:n.364+11345C>G
NR_104212.2:n.887C>G
NR_104215.2:n.830C>G
NR_104216.2:n.478+11345C>G