Canonical Allele Identifier: CA350449770

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593429A>T (hg19) ; chr2:g.214728705A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728705A>T , CM000664.2:g.214728705A>T	GRCh38
NC_000002.11:g.215593429A>T , CM000664.1:g.215593429A>T	GRCh37
NC_000002.10:g.215301674A>T	NCBI36
NG_012047.2:g.86000T>A
NG_012047.3:g.86007T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2305T>A MANE Select	ENSP00000260947.4:p.Ser769Thr
ENST00000421162.2:c.952T>A	ENSP00000392245.2:p.Ser318Thr
ENST00000613192.2:c.*368T>A	ENSP00000483275.2:n.*368T>A
ENST00000613374.5:c.895T>A	ENSP00000484464.1:p.Ser299Thr
ENST00000613706.5:c.1897T>A	ENSP00000484976.2:p.Ser633Thr
ENST00000617164.5:c.2248T>A	ENSP00000480470.1:p.Ser750Thr
ENST00000619009.5:c.766T>A	ENSP00000482293.1:p.Ser256Thr
ENST00000650978.1:c.3680T>A
ENST00000260947.8:c.2305T>A	ENSP00000260947.4:p.Ser769Thr
ENST00000432456.5:c.448T>A
ENST00000455743.5:c.*1925T>A	ENSP00000412186.1:n.*1925T>A
ENST00000471590.5:n.640T>A
ENST00000613192.1:c.475T>A	ENSP00000483275.1:p.Ser159Thr
ENST00000613374.4:c.895T>A	ENSP00000484464.1:p.Ser299Thr
ENST00000613706.4:c.952T>A	ENSP00000484976.1:p.Ser318Thr
ENST00000617164.4:c.2248T>A	ENSP00000480470.1:p.Ser750Thr
ENST00000619009.4:c.766T>A	ENSP00000482293.1:p.Ser256Thr
ENST00000620057.4:c.*971T>A	ENSP00000481988.1:n.*971T>A
NM_000465.3:c.2305T>A	NP_000456.2:p.Ser769Thr
NM_001282543.1:c.2248T>A	NP_001269472.1:p.Ser750Thr
NM_001282545.1:c.952T>A	NP_001269474.1:p.Ser318Thr
NM_001282548.1:c.895T>A	NP_001269477.1:p.Ser299Thr
NM_001282549.1:c.766T>A	NP_001269478.1:p.Ser256Thr
NR_104212.1:n.2298T>A
NR_104215.1:n.2241T>A
NR_104216.1:n.1497T>A
XM_011511567.1:c.2251T>A	XP_011509869.1:p.Ser751Thr
XM_017004613.1:c.2404T>A	XP_016860102.1:p.Ser802Thr
XR_002959322.1:n.2671T>A
NM_000465.4:c.2305T>A MANE Select	NP_000456.2:p.Ser769Thr
NM_001282543.2:c.2248T>A	NP_001269472.1:p.Ser750Thr
NM_001282545.2:c.952T>A	NP_001269474.1:p.Ser318Thr
NM_001282548.2:c.895T>A	NP_001269477.1:p.Ser299Thr
NM_001282549.2:c.766T>A	NP_001269478.1:p.Ser256Thr
NR_104212.2:n.2270T>A
NR_104215.2:n.2213T>A
NR_104216.2:n.1469T>A