Canonical Allele Identifier: CA350449628

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593405T>A (hg19) ; chr2:g.214728681T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728681T>A , CM000664.2:g.214728681T>A	GRCh38
NC_000002.11:g.215593405T>A , CM000664.1:g.215593405T>A	GRCh37
NC_000002.10:g.215301650T>A	NCBI36
NG_012047.2:g.86024A>T
NG_012047.3:g.86031A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.2329A>T MANE Select	ENSP00000260947.4:p.Ser777Cys
ENST00000421162.2:c.976A>T	ENSP00000392245.2:p.Ser326Cys
ENST00000613192.2:c.*392A>T	ENSP00000483275.2:n.*392A>T
ENST00000613374.5:c.919A>T	ENSP00000484464.1:p.Ser307Cys
ENST00000613706.5:c.1921A>T	ENSP00000484976.2:p.Ser641Cys
ENST00000617164.5:c.2272A>T	ENSP00000480470.1:p.Ser758Cys
ENST00000619009.5:c.790A>T	ENSP00000482293.1:p.Ser264Cys
ENST00000650978.1:c.3704A>T
ENST00000260947.8:c.2329A>T	ENSP00000260947.4:p.Ser777Cys
ENST00000432456.5:c.472A>T
ENST00000471590.5:n.664A>T
ENST00000613192.1:c.499A>T	ENSP00000483275.1:p.Ser167Cys
ENST00000613374.4:c.919A>T	ENSP00000484464.1:p.Ser307Cys
ENST00000613706.4:c.976A>T	ENSP00000484976.1:p.Ser326Cys
ENST00000617164.4:c.2272A>T	ENSP00000480470.1:p.Ser758Cys
ENST00000619009.4:c.790A>T	ENSP00000482293.1:p.Ser264Cys
ENST00000620057.4:c.*995A>T	ENSP00000481988.1:n.*995A>T
NM_000465.3:c.2329A>T	NP_000456.2:p.Ser777Cys
NM_001282543.1:c.2272A>T	NP_001269472.1:p.Ser758Cys
NM_001282545.1:c.976A>T	NP_001269474.1:p.Ser326Cys
NM_001282548.1:c.919A>T	NP_001269477.1:p.Ser307Cys
NM_001282549.1:c.790A>T	NP_001269478.1:p.Ser264Cys
NR_104212.1:n.2322A>T
NR_104215.1:n.2265A>T
NR_104216.1:n.1521A>T
XM_011511567.1:c.2275A>T	XP_011509869.1:p.Ser759Cys
XM_017004613.1:c.2428A>T	XP_016860102.1:p.Ser810Cys
XR_002959322.1:n.2695A>T
NM_000465.4:c.2329A>T MANE Select	NP_000456.2:p.Ser777Cys
NM_001282543.2:c.2272A>T	NP_001269472.1:p.Ser758Cys
NM_001282545.2:c.976A>T	NP_001269474.1:p.Ser326Cys
NM_001282548.2:c.919A>T	NP_001269477.1:p.Ser307Cys
NM_001282549.2:c.790A>T	NP_001269478.1:p.Ser264Cys
NR_104212.2:n.2294A>T
NR_104215.2:n.2237A>T
NR_104216.2:n.1493A>T