Canonical Allele Identifier: CA2662970850

Gene: BARD1

Linked Data

• gnomAD v4: 2-214730107-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730107T>A , CM000664.2:g.214730107T>A	GRCh38
NC_000002.11:g.215594831T>A , CM000664.1:g.215594831T>A	GRCh37
NC_000002.10:g.215303076T>A	NCBI36
NG_012047.2:g.84598A>T
NG_012047.3:g.84605A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2001+304A>T MANE Select	ENSP00000260947.4:n.2001+304A>T
ENST00000421162.2:c.648+304A>T	ENSP00000392245.2:n.648+304A>T
ENST00000613192.2:c.*64+304A>T	ENSP00000483275.2:n.*64+304A>T
ENST00000613374.5:c.591+304A>T	ENSP00000484464.1:n.591+304A>T
ENST00000613706.5:c.1593+304A>T	ENSP00000484976.2:n.1593+304A>T
ENST00000617164.5:c.1944+304A>T	ENSP00000480470.1:n.1944+304A>T
ENST00000619009.5:c.462+304A>T	ENSP00000482293.1:n.462+304A>T
ENST00000650978.1:c.3376+304A>T
ENST00000260947.8:c.2001+304A>T	ENSP00000260947.4:n.2001+304A>T
ENST00000432456.5:c.144+128A>T
ENST00000455743.5:c.*1621+304A>T	ENSP00000412186.1:n.*1621+304A>T
ENST00000471590.5:n.336+304A>T
ENST00000613192.1:c.171+304A>T	ENSP00000483275.1:n.171+304A>T
ENST00000613374.4:c.591+304A>T	ENSP00000484464.1:n.591+304A>T
ENST00000613706.4:c.648+304A>T	ENSP00000484976.1:n.648+304A>T
ENST00000617164.4:c.1944+304A>T	ENSP00000480470.1:n.1944+304A>T
ENST00000619009.4:c.462+304A>T	ENSP00000482293.1:n.462+304A>T
ENST00000620057.4:c.*667+304A>T	ENSP00000481988.1:n.*667+304A>T
NM_000465.3:c.2001+304A>T	NP_000456.2:n.2001+304A>T
NM_001282543.1:c.1944+304A>T	NP_001269472.1:n.1944+304A>T
NM_001282545.1:c.648+304A>T	NP_001269474.1:n.648+304A>T
NM_001282548.1:c.591+304A>T	NP_001269477.1:n.591+304A>T
NM_001282549.1:c.462+304A>T	NP_001269478.1:n.462+304A>T
NR_104212.1:n.1994+304A>T
NR_104215.1:n.1937+304A>T
NR_104216.1:n.1193+304A>T
XM_011511567.1:c.1947+304A>T	XP_011509869.1:n.1947+304A>T
XM_017004613.1:c.2100+304A>T	XP_016860102.1:n.2100+304A>T
XR_002959322.1:n.2367+128A>T
NM_000465.4:c.2001+304A>T MANE Select	NP_000456.2:n.2001+304A>T
NM_001282543.2:c.1944+304A>T	NP_001269472.1:n.1944+304A>T
NM_001282545.2:c.648+304A>T	NP_001269474.1:n.648+304A>T
NM_001282548.2:c.591+304A>T	NP_001269477.1:n.591+304A>T
NM_001282549.2:c.462+304A>T	NP_001269478.1:n.462+304A>T
NR_104212.2:n.1966+304A>T
NR_104215.2:n.1909+304A>T
NR_104216.2:n.1165+304A>T