Canonical Allele Identifier: CA350457859

Gene: BARD1

Linked Data

• ClinVar Variation Id: 482787
• ClinVar RCV Id: RCV000564493 ; RCV000815931
• dbSNP Id: rs1553622692
• MyVariant Identifiers: chr2:g.215646173G>A (hg19) ; chr2:g.214781449G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781449G>A , CM000664.2:g.214781449G>A	GRCh38
NC_000002.11:g.215646173G>A , CM000664.1:g.215646173G>A	GRCh37
NC_000002.10:g.215354418G>A	NCBI36
NG_012047.2:g.33256C>T
NG_012047.3:g.33263C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.425C>T MANE Select	ENSP00000260947.4:p.Ser142Leu
ENST00000421162.2:c.215+15612C>T	ENSP00000392245.2:n.215+15612C>T
ENST00000613192.2:c.158+27963C>T	ENSP00000483275.2:n.158+27963C>T
ENST00000613374.5:c.158+27963C>T	ENSP00000484464.1:n.158+27963C>T
ENST00000613706.5:c.425C>T	ENSP00000484976.2:p.Ser142Leu
ENST00000617164.5:c.368C>T	ENSP00000480470.1:p.Ser123Leu
ENST00000619009.5:c.364+10848C>T	ENSP00000482293.1:n.364+10848C>T
ENST00000650978.1:c.267C>T
ENST00000260947.8:c.425C>T	ENSP00000260947.4:p.Ser142Leu
ENST00000421162.1:c.215+15612C>T	ENSP00000392245.1:n.215+15612C>T
ENST00000455743.5:c.*45C>T	ENSP00000412186.1:n.*45C>T
ENST00000471787.1:n.320C>T
ENST00000613192.1:c.73+27963C>T	ENSP00000483275.1:n.73+27963C>T
ENST00000613374.4:c.158+27963C>T	ENSP00000484464.1:n.158+27963C>T
ENST00000613706.4:c.215+15612C>T	ENSP00000484976.1:n.215+15612C>T
ENST00000617164.4:c.368C>T	ENSP00000480470.1:p.Ser123Leu
ENST00000619009.4:c.364+10848C>T	ENSP00000482293.1:n.364+10848C>T
ENST00000620057.4:c.364+10848C>T	ENSP00000481988.1:n.364+10848C>T
NM_000465.3:c.425C>T	NP_000456.2:p.Ser142Leu
NM_001282543.1:c.368C>T	NP_001269472.1:p.Ser123Leu
NM_001282545.1:c.215+15612C>T	NP_001269474.1:n.215+15612C>T
NM_001282548.1:c.158+27963C>T	NP_001269477.1:n.158+27963C>T
NM_001282549.1:c.364+10848C>T	NP_001269478.1:n.364+10848C>T
NR_104212.1:n.418C>T
NR_104215.1:n.361C>T
NR_104216.1:n.506+10848C>T
XM_011511567.1:c.371C>T	XP_011509869.1:p.Ser124Leu
XM_011511568.1:c.425C>T	XP_011509870.1:p.Ser142Leu
XM_017004613.1:c.524C>T	XP_016860102.1:p.Ser175Leu
XM_017004614.1:c.524C>T	XP_016860103.1:p.Ser175Leu
XR_002959322.1:n.615C>T
NM_000465.4:c.425C>T MANE Select	NP_000456.2:p.Ser142Leu
NM_001282543.2:c.368C>T	NP_001269472.1:p.Ser123Leu
NM_001282545.2:c.215+15612C>T	NP_001269474.1:n.215+15612C>T
NM_001282548.2:c.158+27963C>T	NP_001269477.1:n.158+27963C>T
NM_001282549.2:c.364+10848C>T	NP_001269478.1:n.364+10848C>T
NR_104212.2:n.390C>T
NR_104215.2:n.333C>T
NR_104216.2:n.478+10848C>T