Canonical Allele Identifier: CA350451242

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595203A>T (hg19) ; chr2:g.214730479A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730479A>T , CM000664.2:g.214730479A>T	GRCh38
NC_000002.11:g.215595203A>T , CM000664.1:g.215595203A>T	GRCh37
NC_000002.10:g.215303448A>T	NCBI36
NG_012047.2:g.84226T>A
NG_012047.3:g.84233T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1933T>A MANE Select	ENSP00000260947.4:p.Cys645Ser
ENST00000421162.2:c.580T>A	ENSP00000392245.2:p.Cys194Ser
ENST00000613192.2:c.188T>A	ENSP00000483275.2:p.Met63Lys
ENST00000613374.5:c.523T>A	ENSP00000484464.1:p.Cys175Ser
ENST00000613706.5:c.1525T>A	ENSP00000484976.2:p.Cys509Ser
ENST00000617164.5:c.1876T>A	ENSP00000480470.1:p.Cys626Ser
ENST00000619009.5:c.394T>A	ENSP00000482293.1:p.Cys132Ser
ENST00000650978.1:c.3308T>A
ENST00000260947.8:c.1933T>A	ENSP00000260947.4:p.Cys645Ser
ENST00000421162.1:c.580T>A	ENSP00000392245.1:p.Cys194Ser
ENST00000432456.5:c.30T>A
ENST00000455743.5:c.*1553T>A	ENSP00000412186.1:n.*1553T>A
ENST00000471590.5:n.268T>A
ENST00000613192.1:c.103T>A	ENSP00000483275.1:p.Cys35Ser
ENST00000613374.4:c.523T>A	ENSP00000484464.1:p.Cys175Ser
ENST00000613706.4:c.580T>A	ENSP00000484976.1:p.Cys194Ser
ENST00000617164.4:c.1876T>A	ENSP00000480470.1:p.Cys626Ser
ENST00000619009.4:c.394T>A	ENSP00000482293.1:p.Cys132Ser
ENST00000620057.4:c.*599T>A	ENSP00000481988.1:n.*599T>A
NM_000465.3:c.1933T>A	NP_000456.2:p.Cys645Ser
NM_001282543.1:c.1876T>A	NP_001269472.1:p.Cys626Ser
NM_001282545.1:c.580T>A	NP_001269474.1:p.Cys194Ser
NM_001282548.1:c.523T>A	NP_001269477.1:p.Cys175Ser
NM_001282549.1:c.394T>A	NP_001269478.1:p.Cys132Ser
NR_104212.1:n.1926T>A
NR_104215.1:n.1869T>A
NR_104216.1:n.1125T>A
XM_011511567.1:c.1879T>A	XP_011509869.1:p.Cys627Ser
XM_017004613.1:c.2032T>A	XP_016860102.1:p.Cys678Ser
XR_002959322.1:n.2123T>A
NM_000465.4:c.1933T>A MANE Select	NP_000456.2:p.Cys645Ser
NM_001282543.2:c.1876T>A	NP_001269472.1:p.Cys626Ser
NM_001282545.2:c.580T>A	NP_001269474.1:p.Cys194Ser
NM_001282548.2:c.523T>A	NP_001269477.1:p.Cys175Ser
NM_001282549.2:c.394T>A	NP_001269478.1:p.Cys132Ser
NR_104212.2:n.1898T>A
NR_104215.2:n.1841T>A
NR_104216.2:n.1097T>A