Canonical Allele Identifier: CA350450501

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593593G>T (hg19) ; chr2:g.214728869G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728869G>T , CM000664.2:g.214728869G>T	GRCh38
NC_000002.11:g.215593593G>T , CM000664.1:g.215593593G>T	GRCh37
NC_000002.10:g.215301838G>T	NCBI36
NG_012047.2:g.85836C>A
NG_012047.3:g.85843C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.2141C>A MANE Select	ENSP00000260947.4:p.Thr714Asn
ENST00000421162.2:c.788C>A	ENSP00000392245.2:p.Thr263Asn
ENST00000613192.2:c.*204C>A	ENSP00000483275.2:n.*204C>A
ENST00000613374.5:c.731C>A	ENSP00000484464.1:p.Thr244Asn
ENST00000613706.5:c.1733C>A	ENSP00000484976.2:p.Thr578Asn
ENST00000617164.5:c.2084C>A	ENSP00000480470.1:p.Thr695Asn
ENST00000619009.5:c.602C>A	ENSP00000482293.1:p.Thr201Asn
ENST00000650978.1:c.3516C>A
ENST00000260947.8:c.2141C>A	ENSP00000260947.4:p.Thr714Asn
ENST00000432456.5:c.284C>A
ENST00000455743.5:c.*1761C>A	ENSP00000412186.1:n.*1761C>A
ENST00000471590.5:n.476C>A
ENST00000613192.1:c.311C>A	ENSP00000483275.1:p.Thr104Asn
ENST00000613374.4:c.731C>A	ENSP00000484464.1:p.Thr244Asn
ENST00000613706.4:c.788C>A	ENSP00000484976.1:p.Thr263Asn
ENST00000617164.4:c.2084C>A	ENSP00000480470.1:p.Thr695Asn
ENST00000619009.4:c.602C>A	ENSP00000482293.1:p.Thr201Asn
ENST00000620057.4:c.*807C>A	ENSP00000481988.1:n.*807C>A
NM_000465.3:c.2141C>A	NP_000456.2:p.Thr714Asn
NM_001282543.1:c.2084C>A	NP_001269472.1:p.Thr695Asn
NM_001282545.1:c.788C>A	NP_001269474.1:p.Thr263Asn
NM_001282548.1:c.731C>A	NP_001269477.1:p.Thr244Asn
NM_001282549.1:c.602C>A	NP_001269478.1:p.Thr201Asn
NR_104212.1:n.2134C>A
NR_104215.1:n.2077C>A
NR_104216.1:n.1333C>A
XM_011511567.1:c.2087C>A	XP_011509869.1:p.Thr696Asn
XM_017004613.1:c.2240C>A	XP_016860102.1:p.Thr747Asn
XR_002959322.1:n.2507C>A
NM_000465.4:c.2141C>A MANE Select	NP_000456.2:p.Thr714Asn
NM_001282543.2:c.2084C>A	NP_001269472.1:p.Thr695Asn
NM_001282545.2:c.788C>A	NP_001269474.1:p.Thr263Asn
NM_001282548.2:c.731C>A	NP_001269477.1:p.Thr244Asn
NM_001282549.2:c.602C>A	NP_001269478.1:p.Thr201Asn
NR_104212.2:n.2106C>A
NR_104215.2:n.2049C>A
NR_104216.2:n.1305C>A