Canonical Allele Identifier: CA350451304

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595220C>A (hg19) ; chr2:g.214730496C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730496C>A , CM000664.2:g.214730496C>A	GRCh38
NC_000002.11:g.215595220C>A , CM000664.1:g.215595220C>A	GRCh37
NC_000002.10:g.215303465C>A	NCBI36
NG_012047.2:g.84209G>T
NG_012047.3:g.84216G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1916G>T MANE Select	ENSP00000260947.4:p.Cys639Phe
ENST00000421162.2:c.563G>T	ENSP00000392245.2:p.Cys188Phe
ENST00000613192.2:c.171G>T	ENSP00000483275.2:p.Met57Ile
ENST00000613374.5:c.506G>T	ENSP00000484464.1:p.Cys169Phe
ENST00000613706.5:c.1508G>T	ENSP00000484976.2:p.Cys503Phe
ENST00000617164.5:c.1859G>T	ENSP00000480470.1:p.Cys620Phe
ENST00000619009.5:c.377G>T	ENSP00000482293.1:p.Cys126Phe
ENST00000650978.1:c.3291G>T
ENST00000260947.8:c.1916G>T	ENSP00000260947.4:p.Cys639Phe
ENST00000421162.1:c.563G>T	ENSP00000392245.1:p.Cys188Phe
ENST00000432456.5:c.13G>T
ENST00000455743.5:c.*1536G>T	ENSP00000412186.1:n.*1536G>T
ENST00000471590.5:n.251G>T
ENST00000613192.1:c.86G>T	ENSP00000483275.1:p.Cys29Phe
ENST00000613374.4:c.506G>T	ENSP00000484464.1:p.Cys169Phe
ENST00000613706.4:c.563G>T	ENSP00000484976.1:p.Cys188Phe
ENST00000617164.4:c.1859G>T	ENSP00000480470.1:p.Cys620Phe
ENST00000619009.4:c.377G>T	ENSP00000482293.1:p.Cys126Phe
ENST00000620057.4:c.*582G>T	ENSP00000481988.1:n.*582G>T
NM_000465.3:c.1916G>T	NP_000456.2:p.Cys639Phe
NM_001282543.1:c.1859G>T	NP_001269472.1:p.Cys620Phe
NM_001282545.1:c.563G>T	NP_001269474.1:p.Cys188Phe
NM_001282548.1:c.506G>T	NP_001269477.1:p.Cys169Phe
NM_001282549.1:c.377G>T	NP_001269478.1:p.Cys126Phe
NR_104212.1:n.1909G>T
NR_104215.1:n.1852G>T
NR_104216.1:n.1108G>T
XM_011511567.1:c.1862G>T	XP_011509869.1:p.Cys621Phe
XM_017004613.1:c.2015G>T	XP_016860102.1:p.Cys672Phe
XR_002959322.1:n.2106G>T
NM_000465.4:c.1916G>T MANE Select	NP_000456.2:p.Cys639Phe
NM_001282543.2:c.1859G>T	NP_001269472.1:p.Cys620Phe
NM_001282545.2:c.563G>T	NP_001269474.1:p.Cys188Phe
NM_001282548.2:c.506G>T	NP_001269477.1:p.Cys169Phe
NM_001282549.2:c.377G>T	NP_001269478.1:p.Cys126Phe
NR_104212.2:n.1881G>T
NR_104215.2:n.1824G>T
NR_104216.2:n.1080G>T