Canonical Allele Identifier: CA350460867

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1473664
• ClinVar RCV Id: RCV001970804
• dbSNP Id: rs1574839460
• MyVariant Identifiers: chr2:g.215657057T>C (hg19) ; chr2:g.214792333T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792333T>C , CM000664.2:g.214792333T>C	GRCh38
NC_000002.11:g.215657057T>C , CM000664.1:g.215657057T>C	GRCh37
NC_000002.10:g.215365302T>C	NCBI36
NG_012047.2:g.22372A>G
NG_012047.3:g.22379A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.328A>G MANE Select	ENSP00000260947.4:p.Lys110Glu
ENST00000421162.2:c.215+4728A>G	ENSP00000392245.2:n.215+4728A>G
ENST00000613192.2:c.158+17079A>G	ENSP00000483275.2:n.158+17079A>G
ENST00000613374.5:c.158+17079A>G	ENSP00000484464.1:n.158+17079A>G
ENST00000613706.5:c.328A>G	ENSP00000484976.2:p.Lys110Glu
ENST00000617164.5:c.271A>G	ENSP00000480470.1:p.Lys91Glu
ENST00000619009.5:c.328A>G	ENSP00000482293.1:p.Lys110Glu
ENST00000650978.1:c.170A>G
ENST00000260947.8:c.328A>G	ENSP00000260947.4:p.Lys110Glu
ENST00000421162.1:c.215+4728A>G	ENSP00000392245.1:n.215+4728A>G
ENST00000455743.5:c.215+4728A>G	ENSP00000412186.1:n.215+4728A>G
ENST00000471787.1:n.260-10824A>G
ENST00000613192.1:c.73+17079A>G	ENSP00000483275.1:n.73+17079A>G
ENST00000613374.4:c.158+17079A>G	ENSP00000484464.1:n.158+17079A>G
ENST00000613706.4:c.215+4728A>G	ENSP00000484976.1:n.215+4728A>G
ENST00000617164.4:c.271A>G	ENSP00000480470.1:p.Lys91Glu
ENST00000619009.4:c.328A>G	ENSP00000482293.1:p.Lys110Glu
ENST00000620057.4:c.328A>G	ENSP00000481988.1:p.Lys110Glu
NM_000465.3:c.328A>G	NP_000456.2:p.Lys110Glu
NM_001282543.1:c.271A>G	NP_001269472.1:p.Lys91Glu
NM_001282545.1:c.215+4728A>G	NP_001269474.1:n.215+4728A>G
NM_001282548.1:c.158+17079A>G	NP_001269477.1:n.158+17079A>G
NM_001282549.1:c.328A>G	NP_001269478.1:p.Lys110Glu
NR_104212.1:n.357+4728A>G
NR_104215.1:n.301-10824A>G
NR_104216.1:n.470A>G
XM_011511567.1:c.274A>G	XP_011509869.1:p.Lys92Glu
XM_011511568.1:c.328A>G	XP_011509870.1:p.Lys110Glu
XM_017004613.1:c.427A>G	XP_016860102.1:p.Lys143Glu
XM_017004614.1:c.427A>G	XP_016860103.1:p.Lys143Glu
XR_002959322.1:n.518A>G
NM_000465.4:c.328A>G MANE Select	NP_000456.2:p.Lys110Glu
NM_001282543.2:c.271A>G	NP_001269472.1:p.Lys91Glu
NM_001282545.2:c.215+4728A>G	NP_001269474.1:n.215+4728A>G
NM_001282548.2:c.158+17079A>G	NP_001269477.1:n.158+17079A>G
NM_001282549.2:c.328A>G	NP_001269478.1:p.Lys110Glu
NR_104212.2:n.329+4728A>G
NR_104215.2:n.273-10824A>G
NR_104216.2:n.442A>G