Canonical Allele Identifier: CA350451134

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595161T>A (hg19) ; chr2:g.214730437T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730437T>A , CM000664.2:g.214730437T>A	GRCh38
NC_000002.11:g.215595161T>A , CM000664.1:g.215595161T>A	GRCh37
NC_000002.10:g.215303406T>A	NCBI36
NG_012047.2:g.84268A>T
NG_012047.3:g.84275A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1975A>T MANE Select	ENSP00000260947.4:p.Arg659Ter
ENST00000421162.2:c.622A>T	ENSP00000392245.2:p.Arg208Ter
ENST00000613192.2:c.*38A>T	ENSP00000483275.2:n.*38A>T
ENST00000613374.5:c.565A>T	ENSP00000484464.1:p.Arg189Ter
ENST00000613706.5:c.1567A>T	ENSP00000484976.2:p.Arg523Ter
ENST00000617164.5:c.1918A>T	ENSP00000480470.1:p.Arg640Ter
ENST00000619009.5:c.436A>T	ENSP00000482293.1:p.Arg146Ter
ENST00000650978.1:c.3350A>T
ENST00000260947.8:c.1975A>T	ENSP00000260947.4:p.Arg659Ter
ENST00000421162.1:c.622A>T	ENSP00000392245.1:p.Arg208Ter
ENST00000432456.5:c.72A>T
ENST00000455743.5:c.*1595A>T	ENSP00000412186.1:n.*1595A>T
ENST00000471590.5:n.310A>T
ENST00000613192.1:c.145A>T	ENSP00000483275.1:p.Arg49Ter
ENST00000613374.4:c.565A>T	ENSP00000484464.1:p.Arg189Ter
ENST00000613706.4:c.622A>T	ENSP00000484976.1:p.Arg208Ter
ENST00000617164.4:c.1918A>T	ENSP00000480470.1:p.Arg640Ter
ENST00000619009.4:c.436A>T	ENSP00000482293.1:p.Arg146Ter
ENST00000620057.4:c.*641A>T	ENSP00000481988.1:n.*641A>T
NM_000465.3:c.1975A>T	NP_000456.2:p.Arg659Ter
NM_001282543.1:c.1918A>T	NP_001269472.1:p.Arg640Ter
NM_001282545.1:c.622A>T	NP_001269474.1:p.Arg208Ter
NM_001282548.1:c.565A>T	NP_001269477.1:p.Arg189Ter
NM_001282549.1:c.436A>T	NP_001269478.1:p.Arg146Ter
NR_104212.1:n.1968A>T
NR_104215.1:n.1911A>T
NR_104216.1:n.1167A>T
XM_011511567.1:c.1921A>T	XP_011509869.1:p.Arg641Ter
XM_017004613.1:c.2074A>T	XP_016860102.1:p.Arg692Ter
XR_002959322.1:n.2165A>T
NM_000465.4:c.1975A>T MANE Select	NP_000456.2:p.Arg659Ter
NM_001282543.2:c.1918A>T	NP_001269472.1:p.Arg640Ter
NM_001282545.2:c.622A>T	NP_001269474.1:p.Arg208Ter
NM_001282548.2:c.565A>T	NP_001269477.1:p.Arg189Ter
NM_001282549.2:c.436A>T	NP_001269478.1:p.Arg146Ter
NR_104212.2:n.1940A>T
NR_104215.2:n.1883A>T
NR_104216.2:n.1139A>T