Canonical Allele Identifier: CA348210

Gene: BARD1

Linked Data

• ClinVar Variation Id: 220889
• ClinVar RCV Id: RCV000203931 ; RCV000216695 ; RCV002271463
• dbSNP Id: rs864622686
• gnomAD v4: 2-214781308-G-A
• MyVariant Identifiers: chr2:g.215646032G>A (hg19) ; chr2:g.214781308G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781308G>A , CM000664.2:g.214781308G>A	GRCh38
NC_000002.11:g.215646032G>A , CM000664.1:g.215646032G>A	GRCh37
NC_000002.10:g.215354277G>A	NCBI36
NG_012047.2:g.33397C>T
NG_012047.3:g.33404C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.566C>T MANE Select	ENSP00000260947.4:p.Ala189Val
ENST00000421162.2:c.215+15753C>T	ENSP00000392245.2:n.215+15753C>T
ENST00000613192.2:c.158+28104C>T	ENSP00000483275.2:n.158+28104C>T
ENST00000613374.5:c.158+28104C>T	ENSP00000484464.1:n.158+28104C>T
ENST00000613706.5:c.566C>T	ENSP00000484976.2:p.Ala189Val
ENST00000617164.5:c.509C>T	ENSP00000480470.1:p.Ala170Val
ENST00000619009.5:c.364+10989C>T	ENSP00000482293.1:n.364+10989C>T
ENST00000650978.1:c.408C>T
ENST00000260947.8:c.566C>T	ENSP00000260947.4:p.Ala189Val
ENST00000421162.1:c.215+15753C>T	ENSP00000392245.1:n.215+15753C>T
ENST00000455743.5:c.*186C>T	ENSP00000412186.1:n.*186C>T
ENST00000471787.1:n.461C>T
ENST00000613192.1:c.73+28104C>T	ENSP00000483275.1:n.73+28104C>T
ENST00000613374.4:c.158+28104C>T	ENSP00000484464.1:n.158+28104C>T
ENST00000613706.4:c.215+15753C>T	ENSP00000484976.1:n.215+15753C>T
ENST00000617164.4:c.509C>T	ENSP00000480470.1:p.Ala170Val
ENST00000619009.4:c.364+10989C>T	ENSP00000482293.1:n.364+10989C>T
ENST00000620057.4:c.364+10989C>T	ENSP00000481988.1:n.364+10989C>T
NM_000465.3:c.566C>T	NP_000456.2:p.Ala189Val
NM_001282543.1:c.509C>T	NP_001269472.1:p.Ala170Val
NM_001282545.1:c.215+15753C>T	NP_001269474.1:n.215+15753C>T
NM_001282548.1:c.158+28104C>T	NP_001269477.1:n.158+28104C>T
NM_001282549.1:c.364+10989C>T	NP_001269478.1:n.364+10989C>T
NR_104212.1:n.559C>T
NR_104215.1:n.502C>T
NR_104216.1:n.506+10989C>T
XM_011511567.1:c.512C>T	XP_011509869.1:p.Ala171Val
XM_011511568.1:c.566C>T	XP_011509870.1:p.Ala189Val
XM_017004613.1:c.665C>T	XP_016860102.1:p.Ala222Val
XM_017004614.1:c.665C>T	XP_016860103.1:p.Ala222Val
XR_002959322.1:n.756C>T
NM_000465.4:c.566C>T MANE Select	NP_000456.2:p.Ala189Val
NM_001282543.2:c.509C>T	NP_001269472.1:p.Ala170Val
NM_001282545.2:c.215+15753C>T	NP_001269474.1:n.215+15753C>T
NM_001282548.2:c.158+28104C>T	NP_001269477.1:n.158+28104C>T
NM_001282549.2:c.364+10989C>T	NP_001269478.1:n.364+10989C>T
NR_104212.2:n.531C>T
NR_104215.2:n.474C>T
NR_104216.2:n.478+10989C>T