Canonical Allele Identifier: CA764559352

Gene: BARD1

Linked Data

• dbSNP Id: rs1337121923
• gnomAD v3: 2-214730180-G-C
• gnomAD v4: 2-214730180-G-C
• MyVariant Identifiers: chr2:g.215594904G>C (hg19) ; chr2:g.214730180G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730180G>C , CM000664.2:g.214730180G>C	GRCh38
NC_000002.11:g.215594904G>C , CM000664.1:g.215594904G>C	GRCh37
NC_000002.10:g.215303149G>C	NCBI36
NG_012047.2:g.84525C>G
NG_012047.3:g.84532C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2001+231C>G MANE Select	ENSP00000260947.4:n.2001+231C>G
ENST00000421162.2:c.648+231C>G	ENSP00000392245.2:n.648+231C>G
ENST00000613192.2:c.*64+231C>G	ENSP00000483275.2:n.*64+231C>G
ENST00000613374.5:c.591+231C>G	ENSP00000484464.1:n.591+231C>G
ENST00000613706.5:c.1593+231C>G	ENSP00000484976.2:n.1593+231C>G
ENST00000617164.5:c.1944+231C>G	ENSP00000480470.1:n.1944+231C>G
ENST00000619009.5:c.462+231C>G	ENSP00000482293.1:n.462+231C>G
ENST00000650978.1:c.3376+231C>G
ENST00000260947.8:c.2001+231C>G	ENSP00000260947.4:n.2001+231C>G
ENST00000432456.5:c.144+55C>G
ENST00000455743.5:c.*1621+231C>G	ENSP00000412186.1:n.*1621+231C>G
ENST00000471590.5:n.336+231C>G
ENST00000613192.1:c.171+231C>G	ENSP00000483275.1:n.171+231C>G
ENST00000613374.4:c.591+231C>G	ENSP00000484464.1:n.591+231C>G
ENST00000613706.4:c.648+231C>G	ENSP00000484976.1:n.648+231C>G
ENST00000617164.4:c.1944+231C>G	ENSP00000480470.1:n.1944+231C>G
ENST00000619009.4:c.462+231C>G	ENSP00000482293.1:n.462+231C>G
ENST00000620057.4:c.*667+231C>G	ENSP00000481988.1:n.*667+231C>G
NM_000465.3:c.2001+231C>G	NP_000456.2:n.2001+231C>G
NM_001282543.1:c.1944+231C>G	NP_001269472.1:n.1944+231C>G
NM_001282545.1:c.648+231C>G	NP_001269474.1:n.648+231C>G
NM_001282548.1:c.591+231C>G	NP_001269477.1:n.591+231C>G
NM_001282549.1:c.462+231C>G	NP_001269478.1:n.462+231C>G
NR_104212.1:n.1994+231C>G
NR_104215.1:n.1937+231C>G
NR_104216.1:n.1193+231C>G
XM_011511567.1:c.1947+231C>G	XP_011509869.1:n.1947+231C>G
XM_017004613.1:c.2100+231C>G	XP_016860102.1:n.2100+231C>G
XR_002959322.1:n.2367+55C>G
NM_000465.4:c.2001+231C>G MANE Select	NP_000456.2:n.2001+231C>G
NM_001282543.2:c.1944+231C>G	NP_001269472.1:n.1944+231C>G
NM_001282545.2:c.648+231C>G	NP_001269474.1:n.648+231C>G
NM_001282548.2:c.591+231C>G	NP_001269477.1:n.591+231C>G
NM_001282549.2:c.462+231C>G	NP_001269478.1:n.462+231C>G
NR_104212.2:n.1966+231C>G
NR_104215.2:n.1909+231C>G
NR_104216.2:n.1165+231C>G