Canonical Allele Identifier: CA10584179

Gene: BARD1

Linked Data

• ClinVar Variation Id: 246141
• ClinVar RCV Id: RCV000237073 ; RCV000567247 ; RCV001065086
• dbSNP Id: rs879254118
• gnomAD v3: 2-214780630-T-G
• gnomAD v4: 2-214780630-T-G
• MyVariant Identifiers: chr2:g.215645354T>G (hg19) ; chr2:g.214780630T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780630T>G , CM000664.2:g.214780630T>G	GRCh38
NC_000002.11:g.215645354T>G , CM000664.1:g.215645354T>G	GRCh37
NC_000002.10:g.215353599T>G	NCBI36
NG_012047.2:g.34075A>C
NG_012047.3:g.34082A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1244A>C MANE Select	ENSP00000260947.4:p.Lys415Thr
ENST00000421162.2:c.215+16431A>C	ENSP00000392245.2:n.215+16431A>C
ENST00000613192.2:c.158+28782A>C	ENSP00000483275.2:n.158+28782A>C
ENST00000613374.5:c.159-28075A>C	ENSP00000484464.1:n.159-28075A>C
ENST00000613706.5:c.906+338A>C	ENSP00000484976.2:n.906+338A>C
ENST00000617164.5:c.1187A>C	ENSP00000480470.1:p.Lys396Thr
ENST00000619009.5:c.364+11667A>C	ENSP00000482293.1:n.364+11667A>C
ENST00000650978.1:c.1086A>C
ENST00000260947.8:c.1244A>C	ENSP00000260947.4:p.Lys415Thr
ENST00000421162.1:c.215+16431A>C	ENSP00000392245.1:n.215+16431A>C
ENST00000455743.5:c.*864A>C	ENSP00000412186.1:n.*864A>C
ENST00000613192.1:c.73+28782A>C	ENSP00000483275.1:n.73+28782A>C
ENST00000613374.4:c.159-28075A>C	ENSP00000484464.1:n.159-28075A>C
ENST00000613706.4:c.215+16431A>C	ENSP00000484976.1:n.215+16431A>C
ENST00000617164.4:c.1187A>C	ENSP00000480470.1:p.Lys396Thr
ENST00000619009.4:c.364+11667A>C	ENSP00000482293.1:n.364+11667A>C
ENST00000620057.4:c.365-11318A>C	ENSP00000481988.1:n.365-11318A>C
NM_000465.3:c.1244A>C	NP_000456.2:p.Lys415Thr
NM_001282543.1:c.1187A>C	NP_001269472.1:p.Lys396Thr
NM_001282545.1:c.215+16431A>C	NP_001269474.1:n.215+16431A>C
NM_001282548.1:c.159-28075A>C	NP_001269477.1:n.159-28075A>C
NM_001282549.1:c.364+11667A>C	NP_001269478.1:n.364+11667A>C
NR_104212.1:n.1237A>C
NR_104215.1:n.1180A>C
NR_104216.1:n.507-11318A>C
XM_011511567.1:c.1190A>C	XP_011509869.1:p.Lys397Thr
XM_011511568.1:c.1244A>C	XP_011509870.1:p.Lys415Thr
XM_017004613.1:c.1343A>C	XP_016860102.1:p.Lys448Thr
XM_017004614.1:c.1343A>C	XP_016860103.1:p.Lys448Thr
XR_002959322.1:n.1434A>C
NM_000465.4:c.1244A>C MANE Select	NP_000456.2:p.Lys415Thr
NM_001282543.2:c.1187A>C	NP_001269472.1:p.Lys396Thr
NM_001282545.2:c.215+16431A>C	NP_001269474.1:n.215+16431A>C
NM_001282548.2:c.159-28075A>C	NP_001269477.1:n.159-28075A>C
NM_001282549.2:c.364+11667A>C	NP_001269478.1:n.364+11667A>C
NR_104212.2:n.1209A>C
NR_104215.2:n.1152A>C
NR_104216.2:n.479-11318A>C