Canonical Allele Identifier: CA350450536

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215634028T>A (hg19) ; chr2:g.214769304T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214769304T>A , CM000664.2:g.214769304T>A	GRCh38
NC_000002.11:g.215634028T>A , CM000664.1:g.215634028T>A	GRCh37
NC_000002.10:g.215342273T>A	NCBI36
NG_012047.2:g.45401A>T
NG_012047.3:g.45408A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1323A>T MANE Select	ENSP00000260947.4:p.Ile441=
ENST00000421162.2:c.216-16749A>T	ENSP00000392245.2:n.216-16749A>T
ENST00000613192.2:c.159-38796A>T	ENSP00000483275.2:n.159-38796A>T
ENST00000613374.5:c.159-16749A>T	ENSP00000484464.1:n.159-16749A>T
ENST00000613706.5:c.915A>T	ENSP00000484976.2:p.Ile305=
ENST00000617164.5:c.1266A>T	ENSP00000480470.1:p.Ile422=
ENST00000619009.5:c.364+22993A>T	ENSP00000482293.1:n.364+22993A>T
ENST00000650978.1:c.2698A>T
ENST00000260947.8:c.1323A>T	ENSP00000260947.4:p.Ile441=
ENST00000421162.1:c.216-16749A>T	ENSP00000392245.1:n.216-16749A>T
ENST00000455743.5:c.*943A>T	ENSP00000412186.1:n.*943A>T
ENST00000613192.1:c.74-38796A>T	ENSP00000483275.1:n.74-38796A>T
ENST00000613374.4:c.159-16749A>T	ENSP00000484464.1:n.159-16749A>T
ENST00000613706.4:c.216-16749A>T	ENSP00000484976.1:n.216-16749A>T
ENST00000617164.4:c.1266A>T	ENSP00000480470.1:p.Ile422=
ENST00000619009.4:c.364+22993A>T	ENSP00000482293.1:n.364+22993A>T
ENST00000620057.4:c.373A>T	ENSP00000481988.1:p.Thr125Ser
NM_000465.3:c.1323A>T	NP_000456.2:p.Ile441=
NM_001282543.1:c.1266A>T	NP_001269472.1:p.Ile422=
NM_001282545.1:c.216-16749A>T	NP_001269474.1:n.216-16749A>T
NM_001282548.1:c.159-16749A>T	NP_001269477.1:n.159-16749A>T
NM_001282549.1:c.364+22993A>T	NP_001269478.1:n.364+22993A>T
NR_104212.1:n.1316A>T
NR_104215.1:n.1259A>T
NR_104216.1:n.515A>T
XM_011511567.1:c.1269A>T	XP_011509869.1:p.Ile423=
XM_011511568.1:c.1323A>T	XP_011509870.1:p.Ile441=
XM_017004613.1:c.1422A>T	XP_016860102.1:p.Ile474=
XM_017004614.1:c.1422A>T	XP_016860103.1:p.Ile474=
XR_002959322.1:n.1513A>T
NM_000465.4:c.1323A>T MANE Select	NP_000456.2:p.Ile441=
NM_001282543.2:c.1266A>T	NP_001269472.1:p.Ile422=
NM_001282545.2:c.216-16749A>T	NP_001269474.1:n.216-16749A>T
NM_001282548.2:c.159-16749A>T	NP_001269477.1:n.159-16749A>T
NM_001282549.2:c.364+22993A>T	NP_001269478.1:n.364+22993A>T
NR_104212.2:n.1288A>T
NR_104215.2:n.1231A>T
NR_104216.2:n.487A>T