Canonical Allele Identifier: CA350449687

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593414G>T (hg19) ; chr2:g.214728690G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728690G>T , CM000664.2:g.214728690G>T	GRCh38
NC_000002.11:g.215593414G>T , CM000664.1:g.215593414G>T	GRCh37
NC_000002.10:g.215301659G>T	NCBI36
NG_012047.2:g.86015C>A
NG_012047.3:g.86022C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2320C>A MANE Select	ENSP00000260947.4:p.Pro774Thr
ENST00000421162.2:c.967C>A	ENSP00000392245.2:p.Pro323Thr
ENST00000613192.2:c.*383C>A	ENSP00000483275.2:n.*383C>A
ENST00000613374.5:c.910C>A	ENSP00000484464.1:p.Pro304Thr
ENST00000613706.5:c.1912C>A	ENSP00000484976.2:p.Pro638Thr
ENST00000617164.5:c.2263C>A	ENSP00000480470.1:p.Pro755Thr
ENST00000619009.5:c.781C>A	ENSP00000482293.1:p.Pro261Thr
ENST00000650978.1:c.3695C>A
ENST00000260947.8:c.2320C>A	ENSP00000260947.4:p.Pro774Thr
ENST00000432456.5:c.463C>A
ENST00000471590.5:n.655C>A
ENST00000613192.1:c.490C>A	ENSP00000483275.1:p.Pro164Thr
ENST00000613374.4:c.910C>A	ENSP00000484464.1:p.Pro304Thr
ENST00000613706.4:c.967C>A	ENSP00000484976.1:p.Pro323Thr
ENST00000617164.4:c.2263C>A	ENSP00000480470.1:p.Pro755Thr
ENST00000619009.4:c.781C>A	ENSP00000482293.1:p.Pro261Thr
ENST00000620057.4:c.*986C>A	ENSP00000481988.1:n.*986C>A
NM_000465.3:c.2320C>A	NP_000456.2:p.Pro774Thr
NM_001282543.1:c.2263C>A	NP_001269472.1:p.Pro755Thr
NM_001282545.1:c.967C>A	NP_001269474.1:p.Pro323Thr
NM_001282548.1:c.910C>A	NP_001269477.1:p.Pro304Thr
NM_001282549.1:c.781C>A	NP_001269478.1:p.Pro261Thr
NR_104212.1:n.2313C>A
NR_104215.1:n.2256C>A
NR_104216.1:n.1512C>A
XM_011511567.1:c.2266C>A	XP_011509869.1:p.Pro756Thr
XM_017004613.1:c.2419C>A	XP_016860102.1:p.Pro807Thr
XR_002959322.1:n.2686C>A
NM_000465.4:c.2320C>A MANE Select	NP_000456.2:p.Pro774Thr
NM_001282543.2:c.2263C>A	NP_001269472.1:p.Pro755Thr
NM_001282545.2:c.967C>A	NP_001269474.1:p.Pro323Thr
NM_001282548.2:c.910C>A	NP_001269477.1:p.Pro304Thr
NM_001282549.2:c.781C>A	NP_001269478.1:p.Pro261Thr
NR_104212.2:n.2285C>A
NR_104215.2:n.2228C>A
NR_104216.2:n.1484C>A