Canonical Allele Identifier: CA350451232

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595201A>T (hg19) ; chr2:g.214730477A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730477A>T , CM000664.2:g.214730477A>T	GRCh38
NC_000002.11:g.215595201A>T , CM000664.1:g.215595201A>T	GRCh37
NC_000002.10:g.215303446A>T	NCBI36
NG_012047.2:g.84228T>A
NG_012047.3:g.84235T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1935T>A MANE Select	ENSP00000260947.4:p.Cys645Ter
ENST00000421162.2:c.582T>A	ENSP00000392245.2:p.Cys194Ter
ENST00000613192.2:c.190T>A	ENSP00000483275.2:p.Ter64Arg
ENST00000613374.5:c.525T>A	ENSP00000484464.1:p.Cys175Ter
ENST00000613706.5:c.1527T>A	ENSP00000484976.2:p.Cys509Ter
ENST00000617164.5:c.1878T>A	ENSP00000480470.1:p.Cys626Ter
ENST00000619009.5:c.396T>A	ENSP00000482293.1:p.Cys132Ter
ENST00000650978.1:c.3310T>A
ENST00000260947.8:c.1935T>A	ENSP00000260947.4:p.Cys645Ter
ENST00000421162.1:c.582T>A	ENSP00000392245.1:p.Cys194Ter
ENST00000432456.5:c.32T>A
ENST00000455743.5:c.*1555T>A	ENSP00000412186.1:n.*1555T>A
ENST00000471590.5:n.270T>A
ENST00000613192.1:c.105T>A	ENSP00000483275.1:p.Cys35Ter
ENST00000613374.4:c.525T>A	ENSP00000484464.1:p.Cys175Ter
ENST00000613706.4:c.582T>A	ENSP00000484976.1:p.Cys194Ter
ENST00000617164.4:c.1878T>A	ENSP00000480470.1:p.Cys626Ter
ENST00000619009.4:c.396T>A	ENSP00000482293.1:p.Cys132Ter
ENST00000620057.4:c.*601T>A	ENSP00000481988.1:n.*601T>A
NM_000465.3:c.1935T>A	NP_000456.2:p.Cys645Ter
NM_001282543.1:c.1878T>A	NP_001269472.1:p.Cys626Ter
NM_001282545.1:c.582T>A	NP_001269474.1:p.Cys194Ter
NM_001282548.1:c.525T>A	NP_001269477.1:p.Cys175Ter
NM_001282549.1:c.396T>A	NP_001269478.1:p.Cys132Ter
NR_104212.1:n.1928T>A
NR_104215.1:n.1871T>A
NR_104216.1:n.1127T>A
XM_011511567.1:c.1881T>A	XP_011509869.1:p.Cys627Ter
XM_017004613.1:c.2034T>A	XP_016860102.1:p.Cys678Ter
XR_002959322.1:n.2125T>A
NM_000465.4:c.1935T>A MANE Select	NP_000456.2:p.Cys645Ter
NM_001282543.2:c.1878T>A	NP_001269472.1:p.Cys626Ter
NM_001282545.2:c.582T>A	NP_001269474.1:p.Cys194Ter
NM_001282548.2:c.525T>A	NP_001269477.1:p.Cys175Ter
NM_001282549.2:c.396T>A	NP_001269478.1:p.Cys132Ter
NR_104212.2:n.1900T>A
NR_104215.2:n.1843T>A
NR_104216.2:n.1099T>A