Canonical Allele Identifier: CA350453743

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1483326
• ClinVar RCV Id: RCV002003127
• dbSNP Id: rs370553043
• MyVariant Identifiers: chr2:g.215645395A>C (hg19) ; chr2:g.214780671A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780671A>C , CM000664.2:g.214780671A>C	GRCh38
NC_000002.11:g.215645395A>C , CM000664.1:g.215645395A>C	GRCh37
NC_000002.10:g.215353640A>C	NCBI36
NG_012047.2:g.34034T>G
NG_012047.3:g.34041T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1203T>G MANE Select	ENSP00000260947.4:p.Ser401Arg
ENST00000421162.2:c.215+16390T>G	ENSP00000392245.2:n.215+16390T>G
ENST00000613192.2:c.158+28741T>G	ENSP00000483275.2:n.158+28741T>G
ENST00000613374.5:c.159-28116T>G	ENSP00000484464.1:n.159-28116T>G
ENST00000613706.5:c.906+297T>G	ENSP00000484976.2:n.906+297T>G
ENST00000617164.5:c.1146T>G	ENSP00000480470.1:p.Ser382Arg
ENST00000619009.5:c.364+11626T>G	ENSP00000482293.1:n.364+11626T>G
ENST00000650978.1:c.1045T>G
ENST00000260947.8:c.1203T>G	ENSP00000260947.4:p.Ser401Arg
ENST00000421162.1:c.215+16390T>G	ENSP00000392245.1:n.215+16390T>G
ENST00000455743.5:c.*823T>G	ENSP00000412186.1:n.*823T>G
ENST00000613192.1:c.73+28741T>G	ENSP00000483275.1:n.73+28741T>G
ENST00000613374.4:c.159-28116T>G	ENSP00000484464.1:n.159-28116T>G
ENST00000613706.4:c.215+16390T>G	ENSP00000484976.1:n.215+16390T>G
ENST00000617164.4:c.1146T>G	ENSP00000480470.1:p.Ser382Arg
ENST00000619009.4:c.364+11626T>G	ENSP00000482293.1:n.364+11626T>G
ENST00000620057.4:c.365-11359T>G	ENSP00000481988.1:n.365-11359T>G
NM_000465.3:c.1203T>G	NP_000456.2:p.Ser401Arg
NM_001282543.1:c.1146T>G	NP_001269472.1:p.Ser382Arg
NM_001282545.1:c.215+16390T>G	NP_001269474.1:n.215+16390T>G
NM_001282548.1:c.159-28116T>G	NP_001269477.1:n.159-28116T>G
NM_001282549.1:c.364+11626T>G	NP_001269478.1:n.364+11626T>G
NR_104212.1:n.1196T>G
NR_104215.1:n.1139T>G
NR_104216.1:n.507-11359T>G
XM_011511567.1:c.1149T>G	XP_011509869.1:p.Ser383Arg
XM_011511568.1:c.1203T>G	XP_011509870.1:p.Ser401Arg
XM_017004613.1:c.1302T>G	XP_016860102.1:p.Ser434Arg
XM_017004614.1:c.1302T>G	XP_016860103.1:p.Ser434Arg
XR_002959322.1:n.1393T>G
NM_000465.4:c.1203T>G MANE Select	NP_000456.2:p.Ser401Arg
NM_001282543.2:c.1146T>G	NP_001269472.1:p.Ser382Arg
NM_001282545.2:c.215+16390T>G	NP_001269474.1:n.215+16390T>G
NM_001282548.2:c.159-28116T>G	NP_001269477.1:n.159-28116T>G
NM_001282549.2:c.364+11626T>G	NP_001269478.1:n.364+11626T>G
NR_104212.2:n.1168T>G
NR_104215.2:n.1111T>G
NR_104216.2:n.479-11359T>G