Canonical Allele Identifier: CA349803

Gene: BARD1

Linked Data

• ClinVar Variation Id: 219888
• ClinVar RCV Id: RCV000205668 ; RCV000985345 ; RCV002444826 ; RCV003407723
• dbSNP Id: rs750827325
• gnomAD v2: 2-215645462-T-G
• gnomAD v4: 2-214780738-T-G
• MyVariant Identifiers: chr2:g.215645462T>G (hg19) ; chr2:g.214780738T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780738T>G , CM000664.2:g.214780738T>G	GRCh38
NC_000002.11:g.215645462T>G , CM000664.1:g.215645462T>G	GRCh37
NC_000002.10:g.215353707T>G	NCBI36
NG_012047.2:g.33967A>C
NG_012047.3:g.33974A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1136A>C MANE Select	ENSP00000260947.4:p.Lys379Thr
ENST00000421162.2:c.215+16323A>C	ENSP00000392245.2:n.215+16323A>C
ENST00000613192.2:c.158+28674A>C	ENSP00000483275.2:n.158+28674A>C
ENST00000613374.5:c.159-28183A>C	ENSP00000484464.1:n.159-28183A>C
ENST00000613706.5:c.906+230A>C	ENSP00000484976.2:n.906+230A>C
ENST00000617164.5:c.1079A>C	ENSP00000480470.1:p.Lys360Thr
ENST00000619009.5:c.364+11559A>C	ENSP00000482293.1:n.364+11559A>C
ENST00000650978.1:c.978A>C
ENST00000260947.8:c.1136A>C	ENSP00000260947.4:p.Lys379Thr
ENST00000421162.1:c.215+16323A>C	ENSP00000392245.1:n.215+16323A>C
ENST00000455743.5:c.*756A>C	ENSP00000412186.1:n.*756A>C
ENST00000613192.1:c.73+28674A>C	ENSP00000483275.1:n.73+28674A>C
ENST00000613374.4:c.159-28183A>C	ENSP00000484464.1:n.159-28183A>C
ENST00000613706.4:c.215+16323A>C	ENSP00000484976.1:n.215+16323A>C
ENST00000617164.4:c.1079A>C	ENSP00000480470.1:p.Lys360Thr
ENST00000619009.4:c.364+11559A>C	ENSP00000482293.1:n.364+11559A>C
ENST00000620057.4:c.365-11426A>C	ENSP00000481988.1:n.365-11426A>C
NM_000465.3:c.1136A>C	NP_000456.2:p.Lys379Thr
NM_001282543.1:c.1079A>C	NP_001269472.1:p.Lys360Thr
NM_001282545.1:c.215+16323A>C	NP_001269474.1:n.215+16323A>C
NM_001282548.1:c.159-28183A>C	NP_001269477.1:n.159-28183A>C
NM_001282549.1:c.364+11559A>C	NP_001269478.1:n.364+11559A>C
NR_104212.1:n.1129A>C
NR_104215.1:n.1072A>C
NR_104216.1:n.507-11426A>C
XM_011511567.1:c.1082A>C	XP_011509869.1:p.Lys361Thr
XM_011511568.1:c.1136A>C	XP_011509870.1:p.Lys379Thr
XM_017004613.1:c.1235A>C	XP_016860102.1:p.Lys412Thr
XM_017004614.1:c.1235A>C	XP_016860103.1:p.Lys412Thr
XR_002959322.1:n.1326A>C
NM_000465.4:c.1136A>C MANE Select	NP_000456.2:p.Lys379Thr
NM_001282543.2:c.1079A>C	NP_001269472.1:p.Lys360Thr
NM_001282545.2:c.215+16323A>C	NP_001269474.1:n.215+16323A>C
NM_001282548.2:c.159-28183A>C	NP_001269477.1:n.159-28183A>C
NM_001282549.2:c.364+11559A>C	NP_001269478.1:n.364+11559A>C
NR_104212.2:n.1101A>C
NR_104215.2:n.1044A>C
NR_104216.2:n.479-11426A>C