Canonical Allele Identifier: CA350456609

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1971811
• ClinVar RCV Id: RCV002750153 ; RCV004067799
• dbSNP Id: rs2106111202
• gnomAD v4: 2-214781228-G-T
• MyVariant Identifiers: chr2:g.215645952G>T (hg19) ; chr2:g.214781228G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781228G>T , CM000664.2:g.214781228G>T	GRCh38
NC_000002.11:g.215645952G>T , CM000664.1:g.215645952G>T	GRCh37
NC_000002.10:g.215354197G>T	NCBI36
NG_012047.2:g.33477C>A
NG_012047.3:g.33484C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.646C>A MANE Select	ENSP00000260947.4:p.Gln216Lys
ENST00000421162.2:c.215+15833C>A	ENSP00000392245.2:n.215+15833C>A
ENST00000613192.2:c.158+28184C>A	ENSP00000483275.2:n.158+28184C>A
ENST00000613374.5:c.158+28184C>A	ENSP00000484464.1:n.158+28184C>A
ENST00000613706.5:c.646C>A	ENSP00000484976.2:p.Gln216Lys
ENST00000617164.5:c.589C>A	ENSP00000480470.1:p.Gln197Lys
ENST00000619009.5:c.364+11069C>A	ENSP00000482293.1:n.364+11069C>A
ENST00000650978.1:c.488C>A
ENST00000260947.8:c.646C>A	ENSP00000260947.4:p.Gln216Lys
ENST00000421162.1:c.215+15833C>A	ENSP00000392245.1:n.215+15833C>A
ENST00000455743.5:c.*266C>A	ENSP00000412186.1:n.*266C>A
ENST00000471787.1:n.541C>A
ENST00000613192.1:c.73+28184C>A	ENSP00000483275.1:n.73+28184C>A
ENST00000613374.4:c.158+28184C>A	ENSP00000484464.1:n.158+28184C>A
ENST00000613706.4:c.215+15833C>A	ENSP00000484976.1:n.215+15833C>A
ENST00000617164.4:c.589C>A	ENSP00000480470.1:p.Gln197Lys
ENST00000619009.4:c.364+11069C>A	ENSP00000482293.1:n.364+11069C>A
ENST00000620057.4:c.364+11069C>A	ENSP00000481988.1:n.364+11069C>A
NM_000465.3:c.646C>A	NP_000456.2:p.Gln216Lys
NM_001282543.1:c.589C>A	NP_001269472.1:p.Gln197Lys
NM_001282545.1:c.215+15833C>A	NP_001269474.1:n.215+15833C>A
NM_001282548.1:c.158+28184C>A	NP_001269477.1:n.158+28184C>A
NM_001282549.1:c.364+11069C>A	NP_001269478.1:n.364+11069C>A
NR_104212.1:n.639C>A
NR_104215.1:n.582C>A
NR_104216.1:n.506+11069C>A
XM_011511567.1:c.592C>A	XP_011509869.1:p.Gln198Lys
XM_011511568.1:c.646C>A	XP_011509870.1:p.Gln216Lys
XM_017004613.1:c.745C>A	XP_016860102.1:p.Gln249Lys
XM_017004614.1:c.745C>A	XP_016860103.1:p.Gln249Lys
XR_002959322.1:n.836C>A
NM_000465.4:c.646C>A MANE Select	NP_000456.2:p.Gln216Lys
NM_001282543.2:c.589C>A	NP_001269472.1:p.Gln197Lys
NM_001282545.2:c.215+15833C>A	NP_001269474.1:n.215+15833C>A
NM_001282548.2:c.158+28184C>A	NP_001269477.1:n.158+28184C>A
NM_001282549.2:c.364+11069C>A	NP_001269478.1:n.364+11069C>A
NR_104212.2:n.611C>A
NR_104215.2:n.554C>A
NR_104216.2:n.478+11069C>A