Canonical Allele Identifier: CA2662969404

Gene: BARD1

Linked Data

• gnomAD v4: 2-214744928-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214744928G>T , CM000664.2:g.214744928G>T	GRCh38
NC_000002.11:g.215609652G>T , CM000664.1:g.215609652G>T	GRCh37
NC_000002.10:g.215317897G>T	NCBI36
NG_012047.2:g.69777C>A
NG_012047.3:g.69784C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1903+139C>A MANE Select	ENSP00000260947.4:n.1903+139C>A
ENST00000421162.2:c.550+139C>A	ENSP00000392245.2:n.550+139C>A
ENST00000613192.2:c.159-14420C>A	ENSP00000483275.2:n.159-14420C>A
ENST00000613374.5:c.493+139C>A	ENSP00000484464.1:n.493+139C>A
ENST00000613706.5:c.1495+139C>A	ENSP00000484976.2:n.1495+139C>A
ENST00000617164.5:c.1846+139C>A	ENSP00000480470.1:n.1846+139C>A
ENST00000619009.5:c.365-14420C>A	ENSP00000482293.1:n.365-14420C>A
ENST00000650978.1:c.3278+139C>A
ENST00000260947.8:c.1903+139C>A	ENSP00000260947.4:n.1903+139C>A
ENST00000421162.1:c.550+139C>A	ENSP00000392245.1:n.550+139C>A
ENST00000455743.5:c.*1523+139C>A	ENSP00000412186.1:n.*1523+139C>A
ENST00000613192.1:c.74-14420C>A	ENSP00000483275.1:n.74-14420C>A
ENST00000613374.4:c.493+139C>A	ENSP00000484464.1:n.493+139C>A
ENST00000613706.4:c.550+139C>A	ENSP00000484976.1:n.550+139C>A
ENST00000617164.4:c.1846+139C>A	ENSP00000480470.1:n.1846+139C>A
ENST00000619009.4:c.365-14420C>A	ENSP00000482293.1:n.365-14420C>A
ENST00000620057.4:c.*569+139C>A	ENSP00000481988.1:n.*569+139C>A
NM_000465.3:c.1903+139C>A	NP_000456.2:n.1903+139C>A
NM_001282543.1:c.1846+139C>A	NP_001269472.1:n.1846+139C>A
NM_001282545.1:c.550+139C>A	NP_001269474.1:n.550+139C>A
NM_001282548.1:c.493+139C>A	NP_001269477.1:n.493+139C>A
NM_001282549.1:c.365-14420C>A	NP_001269478.1:n.365-14420C>A
NR_104212.1:n.1896+139C>A
NR_104215.1:n.1839+139C>A
NR_104216.1:n.1095+139C>A
XM_011511567.1:c.1849+139C>A	XP_011509869.1:n.1849+139C>A
XM_011511568.1:c.1903+139C>A	XP_011509870.1:n.1903+139C>A
XM_017004613.1:c.2002+139C>A	XP_016860102.1:n.2002+139C>A
XM_017004614.1:c.2002+139C>A	XP_016860103.1:n.2002+139C>A
XR_002959322.1:n.2093+139C>A
NM_000465.4:c.1903+139C>A MANE Select	NP_000456.2:n.1903+139C>A
NM_001282543.2:c.1846+139C>A	NP_001269472.1:n.1846+139C>A
NM_001282545.2:c.550+139C>A	NP_001269474.1:n.550+139C>A
NM_001282548.2:c.493+139C>A	NP_001269477.1:n.493+139C>A
NM_001282549.2:c.365-14420C>A	NP_001269478.1:n.365-14420C>A
NR_104212.2:n.1868+139C>A
NR_104215.2:n.1811+139C>A
NR_104216.2:n.1067+139C>A