Canonical Allele Identifier: CA350450481

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1786662
• ClinVar RCV Id: RCV002430627
• MyVariant Identifiers: chr2:g.215593587G>T (hg19) ; chr2:g.214728863G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728863G>T , CM000664.2:g.214728863G>T	GRCh38
NC_000002.11:g.215593587G>T , CM000664.1:g.215593587G>T	GRCh37
NC_000002.10:g.215301832G>T	NCBI36
NG_012047.2:g.85842C>A
NG_012047.3:g.85849C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2147C>A MANE Select	ENSP00000260947.4:p.Thr716Asn
ENST00000421162.2:c.794C>A	ENSP00000392245.2:p.Thr265Asn
ENST00000613192.2:c.*210C>A	ENSP00000483275.2:n.*210C>A
ENST00000613374.5:c.737C>A	ENSP00000484464.1:p.Thr246Asn
ENST00000613706.5:c.1739C>A	ENSP00000484976.2:p.Thr580Asn
ENST00000617164.5:c.2090C>A	ENSP00000480470.1:p.Thr697Asn
ENST00000619009.5:c.608C>A	ENSP00000482293.1:p.Thr203Asn
ENST00000650978.1:c.3522C>A
ENST00000260947.8:c.2147C>A	ENSP00000260947.4:p.Thr716Asn
ENST00000432456.5:c.290C>A
ENST00000455743.5:c.*1767C>A	ENSP00000412186.1:n.*1767C>A
ENST00000471590.5:n.482C>A
ENST00000613192.1:c.317C>A	ENSP00000483275.1:p.Thr106Asn
ENST00000613374.4:c.737C>A	ENSP00000484464.1:p.Thr246Asn
ENST00000613706.4:c.794C>A	ENSP00000484976.1:p.Thr265Asn
ENST00000617164.4:c.2090C>A	ENSP00000480470.1:p.Thr697Asn
ENST00000619009.4:c.608C>A	ENSP00000482293.1:p.Thr203Asn
ENST00000620057.4:c.*813C>A	ENSP00000481988.1:n.*813C>A
NM_000465.3:c.2147C>A	NP_000456.2:p.Thr716Asn
NM_001282543.1:c.2090C>A	NP_001269472.1:p.Thr697Asn
NM_001282545.1:c.794C>A	NP_001269474.1:p.Thr265Asn
NM_001282548.1:c.737C>A	NP_001269477.1:p.Thr246Asn
NM_001282549.1:c.608C>A	NP_001269478.1:p.Thr203Asn
NR_104212.1:n.2140C>A
NR_104215.1:n.2083C>A
NR_104216.1:n.1339C>A
XM_011511567.1:c.2093C>A	XP_011509869.1:p.Thr698Asn
XM_017004613.1:c.2246C>A	XP_016860102.1:p.Thr749Asn
XR_002959322.1:n.2513C>A
NM_000465.4:c.2147C>A MANE Select	NP_000456.2:p.Thr716Asn
NM_001282543.2:c.2090C>A	NP_001269472.1:p.Thr697Asn
NM_001282545.2:c.794C>A	NP_001269474.1:p.Thr265Asn
NM_001282548.2:c.737C>A	NP_001269477.1:p.Thr246Asn
NM_001282549.2:c.608C>A	NP_001269478.1:p.Thr203Asn
NR_104212.2:n.2112C>A
NR_104215.2:n.2055C>A
NR_104216.2:n.1311C>A