Canonical Allele Identifier: CA350456127

Gene: BARD1

Linked Data

• ClinVar Variation Id: 924532
• ClinVar RCV Id: RCV001185903 ; RCV002560878
• dbSNP Id: rs151325889
• gnomAD v4: 2-214781137-G-A
• MyVariant Identifiers: chr2:g.215645861G>A (hg19) ; chr2:g.214781137G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781137G>A , CM000664.2:g.214781137G>A	GRCh38
NC_000002.11:g.215645861G>A , CM000664.1:g.215645861G>A	GRCh37
NC_000002.10:g.215354106G>A	NCBI36
NG_012047.2:g.33568C>T
NG_012047.3:g.33575C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.737C>T MANE Select	ENSP00000260947.4:p.Pro246Leu
ENST00000421162.2:c.215+15924C>T	ENSP00000392245.2:n.215+15924C>T
ENST00000613192.2:c.158+28275C>T	ENSP00000483275.2:n.158+28275C>T
ENST00000613374.5:c.158+28275C>T	ENSP00000484464.1:n.158+28275C>T
ENST00000613706.5:c.737C>T	ENSP00000484976.2:p.Pro246Leu
ENST00000617164.5:c.680C>T	ENSP00000480470.1:p.Pro227Leu
ENST00000619009.5:c.364+11160C>T	ENSP00000482293.1:n.364+11160C>T
ENST00000650978.1:c.579C>T
ENST00000260947.8:c.737C>T	ENSP00000260947.4:p.Pro246Leu
ENST00000421162.1:c.215+15924C>T	ENSP00000392245.1:n.215+15924C>T
ENST00000455743.5:c.*357C>T	ENSP00000412186.1:n.*357C>T
ENST00000471787.1:n.632C>T
ENST00000613192.1:c.73+28275C>T	ENSP00000483275.1:n.73+28275C>T
ENST00000613374.4:c.158+28275C>T	ENSP00000484464.1:n.158+28275C>T
ENST00000613706.4:c.215+15924C>T	ENSP00000484976.1:n.215+15924C>T
ENST00000617164.4:c.680C>T	ENSP00000480470.1:p.Pro227Leu
ENST00000619009.4:c.364+11160C>T	ENSP00000482293.1:n.364+11160C>T
ENST00000620057.4:c.364+11160C>T	ENSP00000481988.1:n.364+11160C>T
NM_000465.3:c.737C>T	NP_000456.2:p.Pro246Leu
NM_001282543.1:c.680C>T	NP_001269472.1:p.Pro227Leu
NM_001282545.1:c.215+15924C>T	NP_001269474.1:n.215+15924C>T
NM_001282548.1:c.158+28275C>T	NP_001269477.1:n.158+28275C>T
NM_001282549.1:c.364+11160C>T	NP_001269478.1:n.364+11160C>T
NR_104212.1:n.730C>T
NR_104215.1:n.673C>T
NR_104216.1:n.506+11160C>T
XM_011511567.1:c.683C>T	XP_011509869.1:p.Pro228Leu
XM_011511568.1:c.737C>T	XP_011509870.1:p.Pro246Leu
XM_017004613.1:c.836C>T	XP_016860102.1:p.Pro279Leu
XM_017004614.1:c.836C>T	XP_016860103.1:p.Pro279Leu
XR_002959322.1:n.927C>T
NM_000465.4:c.737C>T MANE Select	NP_000456.2:p.Pro246Leu
NM_001282543.2:c.680C>T	NP_001269472.1:p.Pro227Leu
NM_001282545.2:c.215+15924C>T	NP_001269474.1:n.215+15924C>T
NM_001282548.2:c.158+28275C>T	NP_001269477.1:n.158+28275C>T
NM_001282549.2:c.364+11160C>T	NP_001269478.1:n.364+11160C>T
NR_104212.2:n.702C>T
NR_104215.2:n.645C>T
NR_104216.2:n.478+11160C>T