Canonical Allele Identifier: CA2577234253

Gene: BARD1

Linked Data

• dbSNP Id: rs2105990269
• gnomAD v4: 2-214730356-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730356A>G , CM000664.2:g.214730356A>G	GRCh38
NC_000002.11:g.215595080A>G , CM000664.1:g.215595080A>G	GRCh37
NC_000002.10:g.215303325A>G	NCBI36
NG_012047.2:g.84349T>C
NG_012047.3:g.84356T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.2001+55T>C MANE Select	ENSP00000260947.4:n.2001+55T>C
ENST00000421162.2:c.648+55T>C	ENSP00000392245.2:n.648+55T>C
ENST00000613192.2:c.*64+55T>C	ENSP00000483275.2:n.*64+55T>C
ENST00000613374.5:c.591+55T>C	ENSP00000484464.1:n.591+55T>C
ENST00000613706.5:c.1593+55T>C	ENSP00000484976.2:n.1593+55T>C
ENST00000617164.5:c.1944+55T>C	ENSP00000480470.1:n.1944+55T>C
ENST00000619009.5:c.462+55T>C	ENSP00000482293.1:n.462+55T>C
ENST00000650978.1:c.3376+55T>C
ENST00000260947.8:c.2001+55T>C	ENSP00000260947.4:n.2001+55T>C
ENST00000432456.5:c.98+55T>C
ENST00000455743.5:c.*1621+55T>C	ENSP00000412186.1:n.*1621+55T>C
ENST00000471590.5:n.336+55T>C
ENST00000613192.1:c.171+55T>C	ENSP00000483275.1:n.171+55T>C
ENST00000613374.4:c.591+55T>C	ENSP00000484464.1:n.591+55T>C
ENST00000613706.4:c.648+55T>C	ENSP00000484976.1:n.648+55T>C
ENST00000617164.4:c.1944+55T>C	ENSP00000480470.1:n.1944+55T>C
ENST00000619009.4:c.462+55T>C	ENSP00000482293.1:n.462+55T>C
ENST00000620057.4:c.*667+55T>C	ENSP00000481988.1:n.*667+55T>C
NM_000465.3:c.2001+55T>C	NP_000456.2:n.2001+55T>C
NM_001282543.1:c.1944+55T>C	NP_001269472.1:n.1944+55T>C
NM_001282545.1:c.648+55T>C	NP_001269474.1:n.648+55T>C
NM_001282548.1:c.591+55T>C	NP_001269477.1:n.591+55T>C
NM_001282549.1:c.462+55T>C	NP_001269478.1:n.462+55T>C
NR_104212.1:n.1994+55T>C
NR_104215.1:n.1937+55T>C
NR_104216.1:n.1193+55T>C
XM_011511567.1:c.1947+55T>C	XP_011509869.1:n.1947+55T>C
XM_017004613.1:c.2100+55T>C	XP_016860102.1:n.2100+55T>C
XR_002959322.1:n.2246T>C
NM_000465.4:c.2001+55T>C MANE Select	NP_000456.2:n.2001+55T>C
NM_001282543.2:c.1944+55T>C	NP_001269472.1:n.1944+55T>C
NM_001282545.2:c.648+55T>C	NP_001269474.1:n.648+55T>C
NM_001282548.2:c.591+55T>C	NP_001269477.1:n.591+55T>C
NM_001282549.2:c.462+55T>C	NP_001269478.1:n.462+55T>C
NR_104212.2:n.1966+55T>C
NR_104215.2:n.1909+55T>C
NR_104216.2:n.1165+55T>C