Canonical Allele Identifier: CA350460976

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2503791
• ClinVar RCV Id: RCV003230782
• dbSNP Id: rs1559436950
• MyVariant Identifiers: chr2:g.215657080T>A (hg19) ; chr2:g.214792356T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792356T>A , CM000664.2:g.214792356T>A	GRCh38
NC_000002.11:g.215657080T>A , CM000664.1:g.215657080T>A	GRCh37
NC_000002.10:g.215365325T>A	NCBI36
NG_012047.2:g.22349A>T
NG_012047.3:g.22356A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.305A>T MANE Select	ENSP00000260947.4:p.Asp102Val
ENST00000421162.2:c.215+4705A>T	ENSP00000392245.2:n.215+4705A>T
ENST00000613192.2:c.158+17056A>T	ENSP00000483275.2:n.158+17056A>T
ENST00000613374.5:c.158+17056A>T	ENSP00000484464.1:n.158+17056A>T
ENST00000613706.5:c.305A>T	ENSP00000484976.2:p.Asp102Val
ENST00000617164.5:c.248A>T	ENSP00000480470.1:p.Asp83Val
ENST00000619009.5:c.305A>T	ENSP00000482293.1:p.Asp102Val
ENST00000650978.1:c.147A>T
ENST00000260947.8:c.305A>T	ENSP00000260947.4:p.Asp102Val
ENST00000421162.1:c.215+4705A>T	ENSP00000392245.1:n.215+4705A>T
ENST00000455743.5:c.215+4705A>T	ENSP00000412186.1:n.215+4705A>T
ENST00000471787.1:n.260-10847A>T
ENST00000613192.1:c.73+17056A>T	ENSP00000483275.1:n.73+17056A>T
ENST00000613374.4:c.158+17056A>T	ENSP00000484464.1:n.158+17056A>T
ENST00000613706.4:c.215+4705A>T	ENSP00000484976.1:n.215+4705A>T
ENST00000617164.4:c.248A>T	ENSP00000480470.1:p.Asp83Val
ENST00000619009.4:c.305A>T	ENSP00000482293.1:p.Asp102Val
ENST00000620057.4:c.305A>T	ENSP00000481988.1:p.Asp102Val
NM_000465.3:c.305A>T	NP_000456.2:p.Asp102Val
NM_001282543.1:c.248A>T	NP_001269472.1:p.Asp83Val
NM_001282545.1:c.215+4705A>T	NP_001269474.1:n.215+4705A>T
NM_001282548.1:c.158+17056A>T	NP_001269477.1:n.158+17056A>T
NM_001282549.1:c.305A>T	NP_001269478.1:p.Asp102Val
NR_104212.1:n.357+4705A>T
NR_104215.1:n.301-10847A>T
NR_104216.1:n.447A>T
XM_011511567.1:c.251A>T	XP_011509869.1:p.Asp84Val
XM_011511568.1:c.305A>T	XP_011509870.1:p.Asp102Val
XM_017004613.1:c.404A>T	XP_016860102.1:p.Asp135Val
XM_017004614.1:c.404A>T	XP_016860103.1:p.Asp135Val
XR_002959322.1:n.495A>T
NM_000465.4:c.305A>T MANE Select	NP_000456.2:p.Asp102Val
NM_001282543.2:c.248A>T	NP_001269472.1:p.Asp83Val
NM_001282545.2:c.215+4705A>T	NP_001269474.1:n.215+4705A>T
NM_001282548.2:c.158+17056A>T	NP_001269477.1:n.158+17056A>T
NM_001282549.2:c.305A>T	NP_001269478.1:p.Asp102Val
NR_104212.2:n.329+4705A>T
NR_104215.2:n.273-10847A>T
NR_104216.2:n.419A>T