Canonical Allele Identifier: CA350449863

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593443A>T (hg19) ; chr2:g.214728719A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728719A>T , CM000664.2:g.214728719A>T	GRCh38
NC_000002.11:g.215593443A>T , CM000664.1:g.215593443A>T	GRCh37
NC_000002.10:g.215301688A>T	NCBI36
NG_012047.2:g.85986T>A
NG_012047.3:g.85993T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2291T>A MANE Select	ENSP00000260947.4:p.Ile764Lys
ENST00000421162.2:c.938T>A	ENSP00000392245.2:p.Ile313Lys
ENST00000613192.2:c.*354T>A	ENSP00000483275.2:n.*354T>A
ENST00000613374.5:c.881T>A	ENSP00000484464.1:p.Ile294Lys
ENST00000613706.5:c.1883T>A	ENSP00000484976.2:p.Ile628Lys
ENST00000617164.5:c.2234T>A	ENSP00000480470.1:p.Ile745Lys
ENST00000619009.5:c.752T>A	ENSP00000482293.1:p.Ile251Lys
ENST00000650978.1:c.3666T>A
ENST00000260947.8:c.2291T>A	ENSP00000260947.4:p.Ile764Lys
ENST00000432456.5:c.434T>A
ENST00000455743.5:c.*1911T>A	ENSP00000412186.1:n.*1911T>A
ENST00000471590.5:n.626T>A
ENST00000613192.1:c.461T>A	ENSP00000483275.1:p.Ile154Lys
ENST00000613374.4:c.881T>A	ENSP00000484464.1:p.Ile294Lys
ENST00000613706.4:c.938T>A	ENSP00000484976.1:p.Ile313Lys
ENST00000617164.4:c.2234T>A	ENSP00000480470.1:p.Ile745Lys
ENST00000619009.4:c.752T>A	ENSP00000482293.1:p.Ile251Lys
ENST00000620057.4:c.*957T>A	ENSP00000481988.1:n.*957T>A
NM_000465.3:c.2291T>A	NP_000456.2:p.Ile764Lys
NM_001282543.1:c.2234T>A	NP_001269472.1:p.Ile745Lys
NM_001282545.1:c.938T>A	NP_001269474.1:p.Ile313Lys
NM_001282548.1:c.881T>A	NP_001269477.1:p.Ile294Lys
NM_001282549.1:c.752T>A	NP_001269478.1:p.Ile251Lys
NR_104212.1:n.2284T>A
NR_104215.1:n.2227T>A
NR_104216.1:n.1483T>A
XM_011511567.1:c.2237T>A	XP_011509869.1:p.Ile746Lys
XM_017004613.1:c.2390T>A	XP_016860102.1:p.Ile797Lys
XR_002959322.1:n.2657T>A
NM_000465.4:c.2291T>A MANE Select	NP_000456.2:p.Ile764Lys
NM_001282543.2:c.2234T>A	NP_001269472.1:p.Ile745Lys
NM_001282545.2:c.938T>A	NP_001269474.1:p.Ile313Lys
NM_001282548.2:c.881T>A	NP_001269477.1:p.Ile294Lys
NM_001282549.2:c.752T>A	NP_001269478.1:p.Ile251Lys
NR_104212.2:n.2256T>A
NR_104215.2:n.2199T>A
NR_104216.2:n.1455T>A