Canonical Allele Identifier: CA64792530
Gene: BARD1 HGNC NCBI

Linked Data

dbSNP Id: rs1012601988
MyVariant Identifiers: chr2:g.214728632C>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728632C>A , CM000664.2:g.214728632C>A GRCh38
NC_000002.11:g.215593356C>A , CM000664.1:g.215593356C>A GRCh37
NC_000002.10:g.215301601C>A NCBI36
NG_012047.2:g.86073G>T
NG_012047.3:g.86080G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.*44G>T MANE Select ENSP00000260947.4:n.*44G>T
ENST00000613374.5:c.*44G>T ENSP00000484464.1:n.*44G>T
ENST00000613706.5:c.*44G>T ENSP00000484976.2:n.*44G>T
ENST00000617164.5:c.*44G>T ENSP00000480470.1:n.*44G>T
ENST00000619009.5:c.*44G>T ENSP00000482293.1:n.*44G>T
ENST00000650978.1:c.3753G>T
ENST00000260947.8:c.*44G>T ENSP00000260947.4:n.*44G>T
ENST00000432456.5:c.521G>T
ENST00000471590.5:n.713G>T
ENST00000613374.4:c.*44G>T ENSP00000484464.1:n.*44G>T
ENST00000613706.4:c.*44G>T ENSP00000484976.1:n.*44G>T
ENST00000617164.4:c.*44G>T ENSP00000480470.1:n.*44G>T
ENST00000619009.4:c.*44G>T ENSP00000482293.1:n.*44G>T
NM_000465.3:c.*44G>T NP_000456.2:n.*44G>T
NM_001282543.1:c.*44G>T NP_001269472.1:n.*44G>T
NM_001282545.1:c.*44G>T NP_001269474.1:n.*44G>T
NM_001282548.1:c.*44G>T NP_001269477.1:n.*44G>T
NM_001282549.1:c.*44G>T NP_001269478.1:n.*44G>T
NR_104212.1:n.2371G>T
NR_104215.1:n.2314G>T
NR_104216.1:n.1570G>T
XM_011511567.1:c.*44G>T XP_011509869.1:n.*44G>T
XM_017004613.1:c.*44G>T XP_016860102.1:n.*44G>T
XR_002959322.1:n.2744G>T
NM_000465.4:c.*44G>T MANE Select NP_000456.2:n.*44G>T
NM_001282543.2:c.*44G>T NP_001269472.1:n.*44G>T
NM_001282545.2:c.*44G>T NP_001269474.1:n.*44G>T
NM_001282548.2:c.*44G>T NP_001269477.1:n.*44G>T
NM_001282549.2:c.*44G>T NP_001269478.1:n.*44G>T
NR_104212.2:n.2343G>T
NR_104215.2:n.2286G>T
NR_104216.2:n.1542G>T