Canonical Allele Identifier: CA350452300

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215609866G>T (hg19) ; chr2:g.214745142G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745142G>T , CM000664.2:g.214745142G>T	GRCh38
NC_000002.11:g.215609866G>T , CM000664.1:g.215609866G>T	GRCh37
NC_000002.10:g.215318111G>T	NCBI36
NG_012047.2:g.69563C>A
NG_012047.3:g.69570C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1828C>A MANE Select	ENSP00000260947.4:p.Pro610Thr
ENST00000421162.2:c.475C>A	ENSP00000392245.2:p.Pro159Thr
ENST00000613192.2:c.159-14634C>A	ENSP00000483275.2:n.159-14634C>A
ENST00000613374.5:c.418C>A	ENSP00000484464.1:p.Pro140Thr
ENST00000613706.5:c.1420C>A	ENSP00000484976.2:p.Pro474Thr
ENST00000617164.5:c.1771C>A	ENSP00000480470.1:p.Pro591Thr
ENST00000619009.5:c.365-14634C>A	ENSP00000482293.1:n.365-14634C>A
ENST00000650978.1:c.3203C>A
ENST00000260947.8:c.1828C>A	ENSP00000260947.4:p.Pro610Thr
ENST00000421162.1:c.475C>A	ENSP00000392245.1:p.Pro159Thr
ENST00000455743.5:c.*1448C>A	ENSP00000412186.1:n.*1448C>A
ENST00000613192.1:c.74-14634C>A	ENSP00000483275.1:n.74-14634C>A
ENST00000613374.4:c.418C>A	ENSP00000484464.1:p.Pro140Thr
ENST00000613706.4:c.475C>A	ENSP00000484976.1:p.Pro159Thr
ENST00000617164.4:c.1771C>A	ENSP00000480470.1:p.Pro591Thr
ENST00000619009.4:c.365-14634C>A	ENSP00000482293.1:n.365-14634C>A
ENST00000620057.4:c.*494C>A	ENSP00000481988.1:n.*494C>A
NM_000465.3:c.1828C>A	NP_000456.2:p.Pro610Thr
NM_001282543.1:c.1771C>A	NP_001269472.1:p.Pro591Thr
NM_001282545.1:c.475C>A	NP_001269474.1:p.Pro159Thr
NM_001282548.1:c.418C>A	NP_001269477.1:p.Pro140Thr
NM_001282549.1:c.365-14634C>A	NP_001269478.1:n.365-14634C>A
NR_104212.1:n.1821C>A
NR_104215.1:n.1764C>A
NR_104216.1:n.1020C>A
XM_011511567.1:c.1774C>A	XP_011509869.1:p.Pro592Thr
XM_011511568.1:c.1828C>A	XP_011509870.1:p.Pro610Thr
XM_017004613.1:c.1927C>A	XP_016860102.1:p.Pro643Thr
XM_017004614.1:c.1927C>A	XP_016860103.1:p.Pro643Thr
XR_002959322.1:n.2018C>A
NM_000465.4:c.1828C>A MANE Select	NP_000456.2:p.Pro610Thr
NM_001282543.2:c.1771C>A	NP_001269472.1:p.Pro591Thr
NM_001282545.2:c.475C>A	NP_001269474.1:p.Pro159Thr
NM_001282548.2:c.418C>A	NP_001269477.1:p.Pro140Thr
NM_001282549.2:c.365-14634C>A	NP_001269478.1:n.365-14634C>A
NR_104212.2:n.1793C>A
NR_104215.2:n.1736C>A
NR_104216.2:n.992C>A