Canonical Allele Identifier: CA350458410

Gene: BARD1

Linked Data

• ClinVar Variation Id: 481368
• ClinVar RCV Id: RCV000562876 ; RCV001352436
• dbSNP Id: rs1553622731
• MyVariant Identifiers: chr2:g.215646231A>T (hg19) ; chr2:g.214781507A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781507A>T , CM000664.2:g.214781507A>T	GRCh38
NC_000002.11:g.215646231A>T , CM000664.1:g.215646231A>T	GRCh37
NC_000002.10:g.215354476A>T	NCBI36
NG_012047.2:g.33198T>A
NG_012047.3:g.33205T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.367T>A MANE Select	ENSP00000260947.4:p.Leu123Met
ENST00000421162.2:c.215+15554T>A	ENSP00000392245.2:n.215+15554T>A
ENST00000613192.2:c.158+27905T>A	ENSP00000483275.2:n.158+27905T>A
ENST00000613374.5:c.158+27905T>A	ENSP00000484464.1:n.158+27905T>A
ENST00000613706.5:c.367T>A	ENSP00000484976.2:p.Leu123Met
ENST00000617164.5:c.310T>A	ENSP00000480470.1:p.Leu104Met
ENST00000619009.5:c.364+10790T>A	ENSP00000482293.1:n.364+10790T>A
ENST00000650978.1:c.209T>A
ENST00000260947.8:c.367T>A	ENSP00000260947.4:p.Leu123Met
ENST00000421162.1:c.215+15554T>A	ENSP00000392245.1:n.215+15554T>A
ENST00000455743.5:c.218T>A	ENSP00000412186.1:p.Phe73Tyr
ENST00000471787.1:n.262T>A
ENST00000613192.1:c.73+27905T>A	ENSP00000483275.1:n.73+27905T>A
ENST00000613374.4:c.158+27905T>A	ENSP00000484464.1:n.158+27905T>A
ENST00000613706.4:c.215+15554T>A	ENSP00000484976.1:n.215+15554T>A
ENST00000617164.4:c.310T>A	ENSP00000480470.1:p.Leu104Met
ENST00000619009.4:c.364+10790T>A	ENSP00000482293.1:n.364+10790T>A
ENST00000620057.4:c.364+10790T>A	ENSP00000481988.1:n.364+10790T>A
NM_000465.3:c.367T>A	NP_000456.2:p.Leu123Met
NM_001282543.1:c.310T>A	NP_001269472.1:p.Leu104Met
NM_001282545.1:c.215+15554T>A	NP_001269474.1:n.215+15554T>A
NM_001282548.1:c.158+27905T>A	NP_001269477.1:n.158+27905T>A
NM_001282549.1:c.364+10790T>A	NP_001269478.1:n.364+10790T>A
NR_104212.1:n.360T>A
NR_104215.1:n.303T>A
NR_104216.1:n.506+10790T>A
XM_011511567.1:c.313T>A	XP_011509869.1:p.Leu105Met
XM_011511568.1:c.367T>A	XP_011509870.1:p.Leu123Met
XM_017004613.1:c.466T>A	XP_016860102.1:p.Leu156Met
XM_017004614.1:c.466T>A	XP_016860103.1:p.Leu156Met
XR_002959322.1:n.557T>A
NM_000465.4:c.367T>A MANE Select	NP_000456.2:p.Leu123Met
NM_001282543.2:c.310T>A	NP_001269472.1:p.Leu104Met
NM_001282545.2:c.215+15554T>A	NP_001269474.1:n.215+15554T>A
NM_001282548.2:c.158+27905T>A	NP_001269477.1:n.158+27905T>A
NM_001282549.2:c.364+10790T>A	NP_001269478.1:n.364+10790T>A
NR_104212.2:n.332T>A
NR_104215.2:n.275T>A
NR_104216.2:n.478+10790T>A