Canonical Allele Identifier: CA350452087

Gene: BARD1

Linked Data

• gnomAD v4: 2-214745086-G-T
• MyVariant Identifiers: chr2:g.215609810G>T (hg19) ; chr2:g.214745086G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745086G>T , CM000664.2:g.214745086G>T	GRCh38
NC_000002.11:g.215609810G>T , CM000664.1:g.215609810G>T	GRCh37
NC_000002.10:g.215318055G>T	NCBI36
NG_012047.2:g.69619C>A
NG_012047.3:g.69626C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1884C>A MANE Select	ENSP00000260947.4:p.Cys628Ter
ENST00000421162.2:c.531C>A	ENSP00000392245.2:p.Cys177Ter
ENST00000613192.2:c.159-14578C>A	ENSP00000483275.2:n.159-14578C>A
ENST00000613374.5:c.474C>A	ENSP00000484464.1:p.Cys158Ter
ENST00000613706.5:c.1476C>A	ENSP00000484976.2:p.Cys492Ter
ENST00000617164.5:c.1827C>A	ENSP00000480470.1:p.Cys609Ter
ENST00000619009.5:c.365-14578C>A	ENSP00000482293.1:n.365-14578C>A
ENST00000650978.1:c.3259C>A
ENST00000260947.8:c.1884C>A	ENSP00000260947.4:p.Cys628Ter
ENST00000421162.1:c.531C>A	ENSP00000392245.1:p.Cys177Ter
ENST00000455743.5:c.*1504C>A	ENSP00000412186.1:n.*1504C>A
ENST00000613192.1:c.74-14578C>A	ENSP00000483275.1:n.74-14578C>A
ENST00000613374.4:c.474C>A	ENSP00000484464.1:p.Cys158Ter
ENST00000613706.4:c.531C>A	ENSP00000484976.1:p.Cys177Ter
ENST00000617164.4:c.1827C>A	ENSP00000480470.1:p.Cys609Ter
ENST00000619009.4:c.365-14578C>A	ENSP00000482293.1:n.365-14578C>A
ENST00000620057.4:c.*550C>A	ENSP00000481988.1:n.*550C>A
NM_000465.3:c.1884C>A	NP_000456.2:p.Cys628Ter
NM_001282543.1:c.1827C>A	NP_001269472.1:p.Cys609Ter
NM_001282545.1:c.531C>A	NP_001269474.1:p.Cys177Ter
NM_001282548.1:c.474C>A	NP_001269477.1:p.Cys158Ter
NM_001282549.1:c.365-14578C>A	NP_001269478.1:n.365-14578C>A
NR_104212.1:n.1877C>A
NR_104215.1:n.1820C>A
NR_104216.1:n.1076C>A
XM_011511567.1:c.1830C>A	XP_011509869.1:p.Cys610Ter
XM_011511568.1:c.1884C>A	XP_011509870.1:p.Cys628Ter
XM_017004613.1:c.1983C>A	XP_016860102.1:p.Cys661Ter
XM_017004614.1:c.1983C>A	XP_016860103.1:p.Cys661Ter
XR_002959322.1:n.2074C>A
NM_000465.4:c.1884C>A MANE Select	NP_000456.2:p.Cys628Ter
NM_001282543.2:c.1827C>A	NP_001269472.1:p.Cys609Ter
NM_001282545.2:c.531C>A	NP_001269474.1:p.Cys177Ter
NM_001282548.2:c.474C>A	NP_001269477.1:p.Cys158Ter
NM_001282549.2:c.365-14578C>A	NP_001269478.1:n.365-14578C>A
NR_104212.2:n.1849C>A
NR_104215.2:n.1792C>A
NR_104216.2:n.1048C>A