Canonical Allele Identifier: CA350451158

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595178A>C (hg19) ; chr2:g.214730454A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730454A>C , CM000664.2:g.214730454A>C	GRCh38
NC_000002.11:g.215595178A>C , CM000664.1:g.215595178A>C	GRCh37
NC_000002.10:g.215303423A>C	NCBI36
NG_012047.2:g.84251T>G
NG_012047.3:g.84258T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1958T>G MANE Select	ENSP00000260947.4:p.Ile653Ser
ENST00000421162.2:c.605T>G	ENSP00000392245.2:p.Ile202Ser
ENST00000613192.2:c.*21T>G	ENSP00000483275.2:n.*21T>G
ENST00000613374.5:c.548T>G	ENSP00000484464.1:p.Ile183Ser
ENST00000613706.5:c.1550T>G	ENSP00000484976.2:p.Ile517Ser
ENST00000617164.5:c.1901T>G	ENSP00000480470.1:p.Ile634Ser
ENST00000619009.5:c.419T>G	ENSP00000482293.1:p.Ile140Ser
ENST00000650978.1:c.3333T>G
ENST00000260947.8:c.1958T>G	ENSP00000260947.4:p.Ile653Ser
ENST00000421162.1:c.605T>G	ENSP00000392245.1:p.Ile202Ser
ENST00000432456.5:c.55T>G
ENST00000455743.5:c.*1578T>G	ENSP00000412186.1:n.*1578T>G
ENST00000471590.5:n.293T>G
ENST00000613192.1:c.128T>G	ENSP00000483275.1:p.Ile43Ser
ENST00000613374.4:c.548T>G	ENSP00000484464.1:p.Ile183Ser
ENST00000613706.4:c.605T>G	ENSP00000484976.1:p.Ile202Ser
ENST00000617164.4:c.1901T>G	ENSP00000480470.1:p.Ile634Ser
ENST00000619009.4:c.419T>G	ENSP00000482293.1:p.Ile140Ser
ENST00000620057.4:c.*624T>G	ENSP00000481988.1:n.*624T>G
NM_000465.3:c.1958T>G	NP_000456.2:p.Ile653Ser
NM_001282543.1:c.1901T>G	NP_001269472.1:p.Ile634Ser
NM_001282545.1:c.605T>G	NP_001269474.1:p.Ile202Ser
NM_001282548.1:c.548T>G	NP_001269477.1:p.Ile183Ser
NM_001282549.1:c.419T>G	NP_001269478.1:p.Ile140Ser
NR_104212.1:n.1951T>G
NR_104215.1:n.1894T>G
NR_104216.1:n.1150T>G
XM_011511567.1:c.1904T>G	XP_011509869.1:p.Ile635Ser
XM_017004613.1:c.2057T>G	XP_016860102.1:p.Ile686Ser
XR_002959322.1:n.2148T>G
NM_000465.4:c.1958T>G MANE Select	NP_000456.2:p.Ile653Ser
NM_001282543.2:c.1901T>G	NP_001269472.1:p.Ile634Ser
NM_001282545.2:c.605T>G	NP_001269474.1:p.Ile202Ser
NM_001282548.2:c.548T>G	NP_001269477.1:p.Ile183Ser
NM_001282549.2:c.419T>G	NP_001269478.1:p.Ile140Ser
NR_104212.2:n.1923T>G
NR_104215.2:n.1866T>G
NR_104216.2:n.1122T>G