Canonical Allele Identifier: CA350450413

Gene: BARD1

Linked Data

• ClinVar Variation Id: 479182
• ClinVar RCV Id: RCV000562658 ; RCV001030609 ; RCV003335479 ; RCV003159956
• dbSNP Id: rs1553619721
• gnomAD v4: 2-214769282-G-A
• MyVariant Identifiers: chr2:g.215634006G>A (hg19) ; chr2:g.214769282G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214769282G>A , CM000664.2:g.214769282G>A	GRCh38
NC_000002.11:g.215634006G>A , CM000664.1:g.215634006G>A	GRCh37
NC_000002.10:g.215342251G>A	NCBI36
NG_012047.2:g.45423C>T
NG_012047.3:g.45430C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1345C>T MANE Select	ENSP00000260947.4:p.Gln449Ter
ENST00000421162.2:c.216-16727C>T	ENSP00000392245.2:n.216-16727C>T
ENST00000613192.2:c.159-38774C>T	ENSP00000483275.2:n.159-38774C>T
ENST00000613374.5:c.159-16727C>T	ENSP00000484464.1:n.159-16727C>T
ENST00000613706.5:c.937C>T	ENSP00000484976.2:p.Gln313Ter
ENST00000617164.5:c.1288C>T	ENSP00000480470.1:p.Gln430Ter
ENST00000619009.5:c.364+23015C>T	ENSP00000482293.1:n.364+23015C>T
ENST00000650978.1:c.2720C>T
ENST00000260947.8:c.1345C>T	ENSP00000260947.4:p.Gln449Ter
ENST00000421162.1:c.216-16727C>T	ENSP00000392245.1:n.216-16727C>T
ENST00000455743.5:c.*965C>T	ENSP00000412186.1:n.*965C>T
ENST00000613192.1:c.74-38774C>T	ENSP00000483275.1:n.74-38774C>T
ENST00000613374.4:c.159-16727C>T	ENSP00000484464.1:n.159-16727C>T
ENST00000613706.4:c.216-16727C>T	ENSP00000484976.1:n.216-16727C>T
ENST00000617164.4:c.1288C>T	ENSP00000480470.1:p.Gln430Ter
ENST00000619009.4:c.364+23015C>T	ENSP00000482293.1:n.364+23015C>T
ENST00000620057.4:c.*11C>T	ENSP00000481988.1:n.*11C>T
NM_000465.3:c.1345C>T	NP_000456.2:p.Gln449Ter
NM_001282543.1:c.1288C>T	NP_001269472.1:p.Gln430Ter
NM_001282545.1:c.216-16727C>T	NP_001269474.1:n.216-16727C>T
NM_001282548.1:c.159-16727C>T	NP_001269477.1:n.159-16727C>T
NM_001282549.1:c.364+23015C>T	NP_001269478.1:n.364+23015C>T
NR_104212.1:n.1338C>T
NR_104215.1:n.1281C>T
NR_104216.1:n.537C>T
XM_011511567.1:c.1291C>T	XP_011509869.1:p.Gln431Ter
XM_011511568.1:c.1345C>T	XP_011509870.1:p.Gln449Ter
XM_017004613.1:c.1444C>T	XP_016860102.1:p.Gln482Ter
XM_017004614.1:c.1444C>T	XP_016860103.1:p.Gln482Ter
XR_002959322.1:n.1535C>T
NM_000465.4:c.1345C>T MANE Select	NP_000456.2:p.Gln449Ter
NM_001282543.2:c.1288C>T	NP_001269472.1:p.Gln430Ter
NM_001282545.2:c.216-16727C>T	NP_001269474.1:n.216-16727C>T
NM_001282548.2:c.159-16727C>T	NP_001269477.1:n.159-16727C>T
NM_001282549.2:c.364+23015C>T	NP_001269478.1:n.364+23015C>T
NR_104212.2:n.1310C>T
NR_104215.2:n.1253C>T
NR_104216.2:n.509C>T