Canonical Allele Identifier: CA2090104

Gene: BARD1

Linked Data

• ClinVar Variation Id: 490952
• ClinVar RCV Id: RCV003607327
• dbSNP Id: rs745780723
• ExAC: 2:215595117 G / A
• gnomAD v2: 2-215595117-G-A
• gnomAD v4: 2-214730393-G-A
• MyVariant Identifiers: chr2:g.215595117G>A (hg19) ; chr2:g.214730393G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730393G>A , CM000664.2:g.214730393G>A	GRCh38
NC_000002.11:g.215595117G>A , CM000664.1:g.215595117G>A	GRCh37
NC_000002.10:g.215303362G>A	NCBI36
NG_012047.2:g.84312C>T
NG_012047.3:g.84319C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.2001+18C>T MANE Select	ENSP00000260947.4:n.2001+18C>T
ENST00000421162.2:c.648+18C>T	ENSP00000392245.2:n.648+18C>T
ENST00000613192.2:c.*64+18C>T	ENSP00000483275.2:n.*64+18C>T
ENST00000613374.5:c.591+18C>T	ENSP00000484464.1:n.591+18C>T
ENST00000613706.5:c.1593+18C>T	ENSP00000484976.2:n.1593+18C>T
ENST00000617164.5:c.1944+18C>T	ENSP00000480470.1:n.1944+18C>T
ENST00000619009.5:c.462+18C>T	ENSP00000482293.1:n.462+18C>T
ENST00000650978.1:c.3376+18C>T
ENST00000260947.8:c.2001+18C>T	ENSP00000260947.4:n.2001+18C>T
ENST00000432456.5:c.98+18C>T
ENST00000455743.5:c.*1621+18C>T	ENSP00000412186.1:n.*1621+18C>T
ENST00000471590.5:n.336+18C>T
ENST00000613192.1:c.171+18C>T	ENSP00000483275.1:n.171+18C>T
ENST00000613374.4:c.591+18C>T	ENSP00000484464.1:n.591+18C>T
ENST00000613706.4:c.648+18C>T	ENSP00000484976.1:n.648+18C>T
ENST00000617164.4:c.1944+18C>T	ENSP00000480470.1:n.1944+18C>T
ENST00000619009.4:c.462+18C>T	ENSP00000482293.1:n.462+18C>T
ENST00000620057.4:c.*667+18C>T	ENSP00000481988.1:n.*667+18C>T
NM_000465.3:c.2001+18C>T	NP_000456.2:n.2001+18C>T
NM_001282543.1:c.1944+18C>T	NP_001269472.1:n.1944+18C>T
NM_001282545.1:c.648+18C>T	NP_001269474.1:n.648+18C>T
NM_001282548.1:c.591+18C>T	NP_001269477.1:n.591+18C>T
NM_001282549.1:c.462+18C>T	NP_001269478.1:n.462+18C>T
NR_104212.1:n.1994+18C>T
NR_104215.1:n.1937+18C>T
NR_104216.1:n.1193+18C>T
XM_011511567.1:c.1947+18C>T	XP_011509869.1:n.1947+18C>T
XM_017004613.1:c.2100+18C>T	XP_016860102.1:n.2100+18C>T
XR_002959322.1:n.2209C>T
NM_000465.4:c.2001+18C>T MANE Select	NP_000456.2:n.2001+18C>T
NM_001282543.2:c.1944+18C>T	NP_001269472.1:n.1944+18C>T
NM_001282545.2:c.648+18C>T	NP_001269474.1:n.648+18C>T
NM_001282548.2:c.591+18C>T	NP_001269477.1:n.591+18C>T
NM_001282549.2:c.462+18C>T	NP_001269478.1:n.462+18C>T
NR_104212.2:n.1966+18C>T
NR_104215.2:n.1909+18C>T
NR_104216.2:n.1165+18C>T