Canonical Allele Identifier: CA350450107

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593508C>A (hg19) ; chr2:g.214728784C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728784C>A , CM000664.2:g.214728784C>A	GRCh38
NC_000002.11:g.215593508C>A , CM000664.1:g.215593508C>A	GRCh37
NC_000002.10:g.215301753C>A	NCBI36
NG_012047.2:g.85921G>T
NG_012047.3:g.85928G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2226G>T MANE Select	ENSP00000260947.4:p.Leu742Phe
ENST00000421162.2:c.873G>T	ENSP00000392245.2:p.Leu291Phe
ENST00000613192.2:c.*289G>T	ENSP00000483275.2:n.*289G>T
ENST00000613374.5:c.816G>T	ENSP00000484464.1:p.Leu272Phe
ENST00000613706.5:c.1818G>T	ENSP00000484976.2:p.Leu606Phe
ENST00000617164.5:c.2169G>T	ENSP00000480470.1:p.Leu723Phe
ENST00000619009.5:c.687G>T	ENSP00000482293.1:p.Leu229Phe
ENST00000650978.1:c.3601G>T
ENST00000260947.8:c.2226G>T	ENSP00000260947.4:p.Leu742Phe
ENST00000432456.5:c.369G>T
ENST00000455743.5:c.*1846G>T	ENSP00000412186.1:n.*1846G>T
ENST00000471590.5:n.561G>T
ENST00000613192.1:c.396G>T	ENSP00000483275.1:p.Leu132Phe
ENST00000613374.4:c.816G>T	ENSP00000484464.1:p.Leu272Phe
ENST00000613706.4:c.873G>T	ENSP00000484976.1:p.Leu291Phe
ENST00000617164.4:c.2169G>T	ENSP00000480470.1:p.Leu723Phe
ENST00000619009.4:c.687G>T	ENSP00000482293.1:p.Leu229Phe
ENST00000620057.4:c.*892G>T	ENSP00000481988.1:n.*892G>T
NM_000465.3:c.2226G>T	NP_000456.2:p.Leu742Phe
NM_001282543.1:c.2169G>T	NP_001269472.1:p.Leu723Phe
NM_001282545.1:c.873G>T	NP_001269474.1:p.Leu291Phe
NM_001282548.1:c.816G>T	NP_001269477.1:p.Leu272Phe
NM_001282549.1:c.687G>T	NP_001269478.1:p.Leu229Phe
NR_104212.1:n.2219G>T
NR_104215.1:n.2162G>T
NR_104216.1:n.1418G>T
XM_011511567.1:c.2172G>T	XP_011509869.1:p.Leu724Phe
XM_017004613.1:c.2325G>T	XP_016860102.1:p.Leu775Phe
XR_002959322.1:n.2592G>T
NM_000465.4:c.2226G>T MANE Select	NP_000456.2:p.Leu742Phe
NM_001282543.2:c.2169G>T	NP_001269472.1:p.Leu723Phe
NM_001282545.2:c.873G>T	NP_001269474.1:p.Leu291Phe
NM_001282548.2:c.816G>T	NP_001269477.1:p.Leu272Phe
NM_001282549.2:c.687G>T	NP_001269478.1:p.Leu229Phe
NR_104212.2:n.2191G>T
NR_104215.2:n.2134G>T
NR_104216.2:n.1390G>T