Canonical Allele Identifier: CA431145268
Gene: BARD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.215609861A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214745137A>T , CM000664.2:g.214745137A>T GRCh38
NC_000002.11:g.215609861A>T , CM000664.1:g.215609861A>T GRCh37
NC_000002.10:g.215318106A>T NCBI36
NG_012047.2:g.69568T>A
NG_012047.3:g.69575T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1833T>A MANE Select ENSP00000260947.4:p.Gly611=
ENST00000421162.2:c.480T>A ENSP00000392245.2:p.Gly160=
ENST00000613192.2:c.159-14629T>A ENSP00000483275.2:n.159-14629T>A
ENST00000613374.5:c.423T>A ENSP00000484464.1:p.Gly141=
ENST00000613706.5:c.1425T>A ENSP00000484976.2:p.Gly475=
ENST00000617164.5:c.1776T>A ENSP00000480470.1:p.Gly592=
ENST00000619009.5:c.365-14629T>A ENSP00000482293.1:n.365-14629T>A
ENST00000650978.1:c.3208T>A
ENST00000260947.8:c.1833T>A ENSP00000260947.4:p.Gly611=
ENST00000421162.1:c.480T>A ENSP00000392245.1:p.Gly160=
ENST00000455743.5:c.*1453T>A ENSP00000412186.1:n.*1453T>A
ENST00000613192.1:c.74-14629T>A ENSP00000483275.1:n.74-14629T>A
ENST00000613374.4:c.423T>A ENSP00000484464.1:p.Gly141=
ENST00000613706.4:c.480T>A ENSP00000484976.1:p.Gly160=
ENST00000617164.4:c.1776T>A ENSP00000480470.1:p.Gly592=
ENST00000619009.4:c.365-14629T>A ENSP00000482293.1:n.365-14629T>A
ENST00000620057.4:c.*499T>A ENSP00000481988.1:n.*499T>A
NM_000465.3:c.1833T>A NP_000456.2:p.Gly611=
NM_001282543.1:c.1776T>A NP_001269472.1:p.Gly592=
NM_001282545.1:c.480T>A NP_001269474.1:p.Gly160=
NM_001282548.1:c.423T>A NP_001269477.1:p.Gly141=
NM_001282549.1:c.365-14629T>A NP_001269478.1:n.365-14629T>A
NR_104212.1:n.1826T>A
NR_104215.1:n.1769T>A
NR_104216.1:n.1025T>A
XM_011511567.1:c.1779T>A XP_011509869.1:p.Gly593=
XM_011511568.1:c.1833T>A XP_011509870.1:p.Gly611=
XM_017004613.1:c.1932T>A XP_016860102.1:p.Gly644=
XM_017004614.1:c.1932T>A XP_016860103.1:p.Gly644=
XR_002959322.1:n.2023T>A
NM_000465.4:c.1833T>A MANE Select NP_000456.2:p.Gly611=
NM_001282543.2:c.1776T>A NP_001269472.1:p.Gly592=
NM_001282545.2:c.480T>A NP_001269474.1:p.Gly160=
NM_001282548.2:c.423T>A NP_001269477.1:p.Gly141=
NM_001282549.2:c.365-14629T>A NP_001269478.1:n.365-14629T>A
NR_104212.2:n.1798T>A
NR_104215.2:n.1741T>A
NR_104216.2:n.997T>A