Canonical Allele Identifier: CA10577850

Gene: BARD1

Linked Data

• ClinVar Variation Id: 231518
• ClinVar RCV Id: RCV000221974
• dbSNP Id: rs876659204
• gnomAD v3: 2-214792350-A-G
• gnomAD v4: 2-214792350-A-G
• MyVariant Identifiers: chr2:g.215657074A>G (hg19) ; chr2:g.214792350A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792350A>G , CM000664.2:g.214792350A>G	GRCh38
NC_000002.11:g.215657074A>G , CM000664.1:g.215657074A>G	GRCh37
NC_000002.10:g.215365319A>G	NCBI36
NG_012047.2:g.22355T>C
NG_012047.3:g.22362T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.311T>C MANE Select	ENSP00000260947.4:p.Met104Thr
ENST00000421162.2:c.215+4711T>C	ENSP00000392245.2:n.215+4711T>C
ENST00000613192.2:c.158+17062T>C	ENSP00000483275.2:n.158+17062T>C
ENST00000613374.5:c.158+17062T>C	ENSP00000484464.1:n.158+17062T>C
ENST00000613706.5:c.311T>C	ENSP00000484976.2:p.Met104Thr
ENST00000617164.5:c.254T>C	ENSP00000480470.1:p.Met85Thr
ENST00000619009.5:c.311T>C	ENSP00000482293.1:p.Met104Thr
ENST00000650978.1:c.153T>C
ENST00000260947.8:c.311T>C	ENSP00000260947.4:p.Met104Thr
ENST00000421162.1:c.215+4711T>C	ENSP00000392245.1:n.215+4711T>C
ENST00000455743.5:c.215+4711T>C	ENSP00000412186.1:n.215+4711T>C
ENST00000471787.1:n.260-10841T>C
ENST00000613192.1:c.73+17062T>C	ENSP00000483275.1:n.73+17062T>C
ENST00000613374.4:c.158+17062T>C	ENSP00000484464.1:n.158+17062T>C
ENST00000613706.4:c.215+4711T>C	ENSP00000484976.1:n.215+4711T>C
ENST00000617164.4:c.254T>C	ENSP00000480470.1:p.Met85Thr
ENST00000619009.4:c.311T>C	ENSP00000482293.1:p.Met104Thr
ENST00000620057.4:c.311T>C	ENSP00000481988.1:p.Met104Thr
NM_000465.3:c.311T>C	NP_000456.2:p.Met104Thr
NM_001282543.1:c.254T>C	NP_001269472.1:p.Met85Thr
NM_001282545.1:c.215+4711T>C	NP_001269474.1:n.215+4711T>C
NM_001282548.1:c.158+17062T>C	NP_001269477.1:n.158+17062T>C
NM_001282549.1:c.311T>C	NP_001269478.1:p.Met104Thr
NR_104212.1:n.357+4711T>C
NR_104215.1:n.301-10841T>C
NR_104216.1:n.453T>C
XM_011511567.1:c.257T>C	XP_011509869.1:p.Met86Thr
XM_011511568.1:c.311T>C	XP_011509870.1:p.Met104Thr
XM_017004613.1:c.410T>C	XP_016860102.1:p.Met137Thr
XM_017004614.1:c.410T>C	XP_016860103.1:p.Met137Thr
XR_002959322.1:n.501T>C
NM_000465.4:c.311T>C MANE Select	NP_000456.2:p.Met104Thr
NM_001282543.2:c.254T>C	NP_001269472.1:p.Met85Thr
NM_001282545.2:c.215+4711T>C	NP_001269474.1:n.215+4711T>C
NM_001282548.2:c.158+17062T>C	NP_001269477.1:n.158+17062T>C
NM_001282549.2:c.311T>C	NP_001269478.1:p.Met104Thr
NR_104212.2:n.329+4711T>C
NR_104215.2:n.273-10841T>C
NR_104216.2:n.425T>C