Canonical Allele Identifier: CA350452284

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215609863C>A (hg19) ; chr2:g.214745139C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745139C>A , CM000664.2:g.214745139C>A	GRCh38
NC_000002.11:g.215609863C>A , CM000664.1:g.215609863C>A	GRCh37
NC_000002.10:g.215318108C>A	NCBI36
NG_012047.2:g.69566G>T
NG_012047.3:g.69573G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1831G>T MANE Select	ENSP00000260947.4:p.Gly611Cys
ENST00000421162.2:c.478G>T	ENSP00000392245.2:p.Gly160Cys
ENST00000613192.2:c.159-14631G>T	ENSP00000483275.2:n.159-14631G>T
ENST00000613374.5:c.421G>T	ENSP00000484464.1:p.Gly141Cys
ENST00000613706.5:c.1423G>T	ENSP00000484976.2:p.Gly475Cys
ENST00000617164.5:c.1774G>T	ENSP00000480470.1:p.Gly592Cys
ENST00000619009.5:c.365-14631G>T	ENSP00000482293.1:n.365-14631G>T
ENST00000650978.1:c.3206G>T
ENST00000260947.8:c.1831G>T	ENSP00000260947.4:p.Gly611Cys
ENST00000421162.1:c.478G>T	ENSP00000392245.1:p.Gly160Cys
ENST00000455743.5:c.*1451G>T	ENSP00000412186.1:n.*1451G>T
ENST00000613192.1:c.74-14631G>T	ENSP00000483275.1:n.74-14631G>T
ENST00000613374.4:c.421G>T	ENSP00000484464.1:p.Gly141Cys
ENST00000613706.4:c.478G>T	ENSP00000484976.1:p.Gly160Cys
ENST00000617164.4:c.1774G>T	ENSP00000480470.1:p.Gly592Cys
ENST00000619009.4:c.365-14631G>T	ENSP00000482293.1:n.365-14631G>T
ENST00000620057.4:c.*497G>T	ENSP00000481988.1:n.*497G>T
NM_000465.3:c.1831G>T	NP_000456.2:p.Gly611Cys
NM_001282543.1:c.1774G>T	NP_001269472.1:p.Gly592Cys
NM_001282545.1:c.478G>T	NP_001269474.1:p.Gly160Cys
NM_001282548.1:c.421G>T	NP_001269477.1:p.Gly141Cys
NM_001282549.1:c.365-14631G>T	NP_001269478.1:n.365-14631G>T
NR_104212.1:n.1824G>T
NR_104215.1:n.1767G>T
NR_104216.1:n.1023G>T
XM_011511567.1:c.1777G>T	XP_011509869.1:p.Gly593Cys
XM_011511568.1:c.1831G>T	XP_011509870.1:p.Gly611Cys
XM_017004613.1:c.1930G>T	XP_016860102.1:p.Gly644Cys
XM_017004614.1:c.1930G>T	XP_016860103.1:p.Gly644Cys
XR_002959322.1:n.2021G>T
NM_000465.4:c.1831G>T MANE Select	NP_000456.2:p.Gly611Cys
NM_001282543.2:c.1774G>T	NP_001269472.1:p.Gly592Cys
NM_001282545.2:c.478G>T	NP_001269474.1:p.Gly160Cys
NM_001282548.2:c.421G>T	NP_001269477.1:p.Gly141Cys
NM_001282549.2:c.365-14631G>T	NP_001269478.1:n.365-14631G>T
NR_104212.2:n.1796G>T
NR_104215.2:n.1739G>T
NR_104216.2:n.995G>T