Canonical Allele Identifier: CA350449844

Gene: BARD1

Linked Data

• ClinVar Variation Id: 821018
• ClinVar RCV Id: RCV001015043 ; RCV003607375
• dbSNP Id: rs1574701742
• MyVariant Identifiers: chr2:g.215593441C>T (hg19) ; chr2:g.214728717C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728717C>T , CM000664.2:g.214728717C>T	GRCh38
NC_000002.11:g.215593441C>T , CM000664.1:g.215593441C>T	GRCh37
NC_000002.10:g.215301686C>T	NCBI36
NG_012047.2:g.85988G>A
NG_012047.3:g.85995G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2293G>A MANE Select	ENSP00000260947.4:p.Asp765Asn
ENST00000421162.2:c.940G>A	ENSP00000392245.2:p.Asp314Asn
ENST00000613192.2:c.*356G>A	ENSP00000483275.2:n.*356G>A
ENST00000613374.5:c.883G>A	ENSP00000484464.1:p.Asp295Asn
ENST00000613706.5:c.1885G>A	ENSP00000484976.2:p.Asp629Asn
ENST00000617164.5:c.2236G>A	ENSP00000480470.1:p.Asp746Asn
ENST00000619009.5:c.754G>A	ENSP00000482293.1:p.Asp252Asn
ENST00000650978.1:c.3668G>A
ENST00000260947.8:c.2293G>A	ENSP00000260947.4:p.Asp765Asn
ENST00000432456.5:c.436G>A
ENST00000455743.5:c.*1913G>A	ENSP00000412186.1:n.*1913G>A
ENST00000471590.5:n.628G>A
ENST00000613192.1:c.463G>A	ENSP00000483275.1:p.Asp155Asn
ENST00000613374.4:c.883G>A	ENSP00000484464.1:p.Asp295Asn
ENST00000613706.4:c.940G>A	ENSP00000484976.1:p.Asp314Asn
ENST00000617164.4:c.2236G>A	ENSP00000480470.1:p.Asp746Asn
ENST00000619009.4:c.754G>A	ENSP00000482293.1:p.Asp252Asn
ENST00000620057.4:c.*959G>A	ENSP00000481988.1:n.*959G>A
NM_000465.3:c.2293G>A	NP_000456.2:p.Asp765Asn
NM_001282543.1:c.2236G>A	NP_001269472.1:p.Asp746Asn
NM_001282545.1:c.940G>A	NP_001269474.1:p.Asp314Asn
NM_001282548.1:c.883G>A	NP_001269477.1:p.Asp295Asn
NM_001282549.1:c.754G>A	NP_001269478.1:p.Asp252Asn
NR_104212.1:n.2286G>A
NR_104215.1:n.2229G>A
NR_104216.1:n.1485G>A
XM_011511567.1:c.2239G>A	XP_011509869.1:p.Asp747Asn
XM_017004613.1:c.2392G>A	XP_016860102.1:p.Asp798Asn
XR_002959322.1:n.2659G>A
NM_000465.4:c.2293G>A MANE Select	NP_000456.2:p.Asp765Asn
NM_001282543.2:c.2236G>A	NP_001269472.1:p.Asp746Asn
NM_001282545.2:c.940G>A	NP_001269474.1:p.Asp314Asn
NM_001282548.2:c.883G>A	NP_001269477.1:p.Asp295Asn
NM_001282549.2:c.754G>A	NP_001269478.1:p.Asp252Asn
NR_104212.2:n.2258G>A
NR_104215.2:n.2201G>A
NR_104216.2:n.1457G>A