Canonical Allele Identifier: CA350450487

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593589C>A (hg19) ; chr2:g.214728865C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728865C>A , CM000664.2:g.214728865C>A	GRCh38
NC_000002.11:g.215593589C>A , CM000664.1:g.215593589C>A	GRCh37
NC_000002.10:g.215301834C>A	NCBI36
NG_012047.2:g.85840G>T
NG_012047.3:g.85847G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2145G>T MANE Select	ENSP00000260947.4:p.Gln715His
ENST00000421162.2:c.792G>T	ENSP00000392245.2:p.Gln264His
ENST00000613192.2:c.*208G>T	ENSP00000483275.2:n.*208G>T
ENST00000613374.5:c.735G>T	ENSP00000484464.1:p.Gln245His
ENST00000613706.5:c.1737G>T	ENSP00000484976.2:p.Gln579His
ENST00000617164.5:c.2088G>T	ENSP00000480470.1:p.Gln696His
ENST00000619009.5:c.606G>T	ENSP00000482293.1:p.Gln202His
ENST00000650978.1:c.3520G>T
ENST00000260947.8:c.2145G>T	ENSP00000260947.4:p.Gln715His
ENST00000432456.5:c.288G>T
ENST00000455743.5:c.*1765G>T	ENSP00000412186.1:n.*1765G>T
ENST00000471590.5:n.480G>T
ENST00000613192.1:c.315G>T	ENSP00000483275.1:p.Gln105His
ENST00000613374.4:c.735G>T	ENSP00000484464.1:p.Gln245His
ENST00000613706.4:c.792G>T	ENSP00000484976.1:p.Gln264His
ENST00000617164.4:c.2088G>T	ENSP00000480470.1:p.Gln696His
ENST00000619009.4:c.606G>T	ENSP00000482293.1:p.Gln202His
ENST00000620057.4:c.*811G>T	ENSP00000481988.1:n.*811G>T
NM_000465.3:c.2145G>T	NP_000456.2:p.Gln715His
NM_001282543.1:c.2088G>T	NP_001269472.1:p.Gln696His
NM_001282545.1:c.792G>T	NP_001269474.1:p.Gln264His
NM_001282548.1:c.735G>T	NP_001269477.1:p.Gln245His
NM_001282549.1:c.606G>T	NP_001269478.1:p.Gln202His
NR_104212.1:n.2138G>T
NR_104215.1:n.2081G>T
NR_104216.1:n.1337G>T
XM_011511567.1:c.2091G>T	XP_011509869.1:p.Gln697His
XM_017004613.1:c.2244G>T	XP_016860102.1:p.Gln748His
XR_002959322.1:n.2511G>T
NM_000465.4:c.2145G>T MANE Select	NP_000456.2:p.Gln715His
NM_001282543.2:c.2088G>T	NP_001269472.1:p.Gln696His
NM_001282545.2:c.792G>T	NP_001269474.1:p.Gln264His
NM_001282548.2:c.735G>T	NP_001269477.1:p.Gln245His
NM_001282549.2:c.606G>T	NP_001269478.1:p.Gln202His
NR_104212.2:n.2110G>T
NR_104215.2:n.2053G>T
NR_104216.2:n.1309G>T