Canonical Allele Identifier: CA195222

Gene: BARD1

Linked Data

• ClinVar Variation Id: 186580
• ClinVar RCV Id: RCV000166197 ; RCV000475001 ; RCV000480359 ; RCV001201307
• dbSNP Id: rs587782436
• ExAC: 2:215645445 C / T
• gnomAD v2: 2-215645445-C-T
• gnomAD v3: 2-214780721-C-T
• gnomAD v4: 2-214780721-C-T
• MyVariant Identifiers: chr2:g.215645445C>T (hg19) ; chr2:g.214780721C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780721C>T , CM000664.2:g.214780721C>T	GRCh38
NC_000002.11:g.215645445C>T , CM000664.1:g.215645445C>T	GRCh37
NC_000002.10:g.215353690C>T	NCBI36
NG_012047.2:g.33984G>A
NG_012047.3:g.33991G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1153G>A MANE Select	ENSP00000260947.4:p.Asp385Asn
ENST00000421162.2:c.215+16340G>A	ENSP00000392245.2:n.215+16340G>A
ENST00000613192.2:c.158+28691G>A	ENSP00000483275.2:n.158+28691G>A
ENST00000613374.5:c.159-28166G>A	ENSP00000484464.1:n.159-28166G>A
ENST00000613706.5:c.906+247G>A	ENSP00000484976.2:n.906+247G>A
ENST00000617164.5:c.1096G>A	ENSP00000480470.1:p.Asp366Asn
ENST00000619009.5:c.364+11576G>A	ENSP00000482293.1:n.364+11576G>A
ENST00000650978.1:c.995G>A
ENST00000260947.8:c.1153G>A	ENSP00000260947.4:p.Asp385Asn
ENST00000421162.1:c.215+16340G>A	ENSP00000392245.1:n.215+16340G>A
ENST00000455743.5:c.*773G>A	ENSP00000412186.1:n.*773G>A
ENST00000613192.1:c.73+28691G>A	ENSP00000483275.1:n.73+28691G>A
ENST00000613374.4:c.159-28166G>A	ENSP00000484464.1:n.159-28166G>A
ENST00000613706.4:c.215+16340G>A	ENSP00000484976.1:n.215+16340G>A
ENST00000617164.4:c.1096G>A	ENSP00000480470.1:p.Asp366Asn
ENST00000619009.4:c.364+11576G>A	ENSP00000482293.1:n.364+11576G>A
ENST00000620057.4:c.365-11409G>A	ENSP00000481988.1:n.365-11409G>A
NM_000465.3:c.1153G>A	NP_000456.2:p.Asp385Asn
NM_001282543.1:c.1096G>A	NP_001269472.1:p.Asp366Asn
NM_001282545.1:c.215+16340G>A	NP_001269474.1:n.215+16340G>A
NM_001282548.1:c.159-28166G>A	NP_001269477.1:n.159-28166G>A
NM_001282549.1:c.364+11576G>A	NP_001269478.1:n.364+11576G>A
NR_104212.1:n.1146G>A
NR_104215.1:n.1089G>A
NR_104216.1:n.507-11409G>A
XM_011511567.1:c.1099G>A	XP_011509869.1:p.Asp367Asn
XM_011511568.1:c.1153G>A	XP_011509870.1:p.Asp385Asn
XM_017004613.1:c.1252G>A	XP_016860102.1:p.Asp418Asn
XM_017004614.1:c.1252G>A	XP_016860103.1:p.Asp418Asn
XR_002959322.1:n.1343G>A
NM_000465.4:c.1153G>A MANE Select	NP_000456.2:p.Asp385Asn
NM_001282543.2:c.1096G>A	NP_001269472.1:p.Asp366Asn
NM_001282545.2:c.215+16340G>A	NP_001269474.1:n.215+16340G>A
NM_001282548.2:c.159-28166G>A	NP_001269477.1:n.159-28166G>A
NM_001282549.2:c.364+11576G>A	NP_001269478.1:n.364+11576G>A
NR_104212.2:n.1118G>A
NR_104215.2:n.1061G>A
NR_104216.2:n.479-11409G>A