Canonical Allele Identifier: CA350451282

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595214C>A (hg19) ; chr2:g.214730490C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730490C>A , CM000664.2:g.214730490C>A	GRCh38
NC_000002.11:g.215595214C>A , CM000664.1:g.215595214C>A	GRCh37
NC_000002.10:g.215303459C>A	NCBI36
NG_012047.2:g.84215G>T
NG_012047.3:g.84222G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1922G>T MANE Select	ENSP00000260947.4:p.Arg641Leu
ENST00000421162.2:c.569G>T	ENSP00000392245.2:p.Arg190Leu
ENST00000613192.2:c.177G>T	ENSP00000483275.2:p.Thr59=
ENST00000613374.5:c.512G>T	ENSP00000484464.1:p.Arg171Leu
ENST00000613706.5:c.1514G>T	ENSP00000484976.2:p.Arg505Leu
ENST00000617164.5:c.1865G>T	ENSP00000480470.1:p.Arg622Leu
ENST00000619009.5:c.383G>T	ENSP00000482293.1:p.Arg128Leu
ENST00000650978.1:c.3297G>T
ENST00000260947.8:c.1922G>T	ENSP00000260947.4:p.Arg641Leu
ENST00000421162.1:c.569G>T	ENSP00000392245.1:p.Arg190Leu
ENST00000432456.5:c.19G>T
ENST00000455743.5:c.*1542G>T	ENSP00000412186.1:n.*1542G>T
ENST00000471590.5:n.257G>T
ENST00000613192.1:c.92G>T	ENSP00000483275.1:p.Arg31Leu
ENST00000613374.4:c.512G>T	ENSP00000484464.1:p.Arg171Leu
ENST00000613706.4:c.569G>T	ENSP00000484976.1:p.Arg190Leu
ENST00000617164.4:c.1865G>T	ENSP00000480470.1:p.Arg622Leu
ENST00000619009.4:c.383G>T	ENSP00000482293.1:p.Arg128Leu
ENST00000620057.4:c.*588G>T	ENSP00000481988.1:n.*588G>T
NM_000465.3:c.1922G>T	NP_000456.2:p.Arg641Leu
NM_001282543.1:c.1865G>T	NP_001269472.1:p.Arg622Leu
NM_001282545.1:c.569G>T	NP_001269474.1:p.Arg190Leu
NM_001282548.1:c.512G>T	NP_001269477.1:p.Arg171Leu
NM_001282549.1:c.383G>T	NP_001269478.1:p.Arg128Leu
NR_104212.1:n.1915G>T
NR_104215.1:n.1858G>T
NR_104216.1:n.1114G>T
XM_011511567.1:c.1868G>T	XP_011509869.1:p.Arg623Leu
XM_017004613.1:c.2021G>T	XP_016860102.1:p.Arg674Leu
XR_002959322.1:n.2112G>T
NM_000465.4:c.1922G>T MANE Select	NP_000456.2:p.Arg641Leu
NM_001282543.2:c.1865G>T	NP_001269472.1:p.Arg622Leu
NM_001282545.2:c.569G>T	NP_001269474.1:p.Arg190Leu
NM_001282548.2:c.512G>T	NP_001269477.1:p.Arg171Leu
NM_001282549.2:c.383G>T	NP_001269478.1:p.Arg128Leu
NR_104212.2:n.1887G>T
NR_104215.2:n.1830G>T
NR_104216.2:n.1086G>T