Canonical Allele Identifier: CA64779981

Gene: BARD1

Linked Data

• ClinVar Variation Id: 652855
• ClinVar RCV Id: RCV000808507 ; RCV002390619 ; RCV002508260
• dbSNP Id: rs375029767
• MyVariant Identifiers: chr2:g.215632295T>A (hg19) ; chr2:g.214767571T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214767571T>A , CM000664.2:g.214767571T>A	GRCh38
NC_000002.11:g.215632295T>A , CM000664.1:g.215632295T>A	GRCh37
NC_000002.10:g.215340540T>A	NCBI36
NG_012047.2:g.47134A>T
NG_012047.3:g.47141A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1479A>T MANE Select	ENSP00000260947.4:p.Gln493His
ENST00000421162.2:c.216-15016A>T	ENSP00000392245.2:n.216-15016A>T
ENST00000613192.2:c.159-37063A>T	ENSP00000483275.2:n.159-37063A>T
ENST00000613374.5:c.159-15016A>T	ENSP00000484464.1:n.159-15016A>T
ENST00000613706.5:c.1071A>T	ENSP00000484976.2:p.Gln357His
ENST00000617164.5:c.1422A>T	ENSP00000480470.1:p.Gln474His
ENST00000619009.5:c.364+24726A>T	ENSP00000482293.1:n.364+24726A>T
ENST00000650978.1:c.2854A>T
ENST00000260947.8:c.1479A>T	ENSP00000260947.4:p.Gln493His
ENST00000421162.1:c.216-15016A>T	ENSP00000392245.1:n.216-15016A>T
ENST00000455743.5:c.*1099A>T	ENSP00000412186.1:n.*1099A>T
ENST00000613192.1:c.74-37063A>T	ENSP00000483275.1:n.74-37063A>T
ENST00000613374.4:c.159-15016A>T	ENSP00000484464.1:n.159-15016A>T
ENST00000613706.4:c.216-15016A>T	ENSP00000484976.1:n.216-15016A>T
ENST00000617164.4:c.1422A>T	ENSP00000480470.1:p.Gln474His
ENST00000619009.4:c.364+24726A>T	ENSP00000482293.1:n.364+24726A>T
ENST00000620057.4:c.*145A>T	ENSP00000481988.1:n.*145A>T
NM_000465.3:c.1479A>T	NP_000456.2:p.Gln493His
NM_001282543.1:c.1422A>T	NP_001269472.1:p.Gln474His
NM_001282545.1:c.216-15016A>T	NP_001269474.1:n.216-15016A>T
NM_001282548.1:c.159-15016A>T	NP_001269477.1:n.159-15016A>T
NM_001282549.1:c.364+24726A>T	NP_001269478.1:n.364+24726A>T
NR_104212.1:n.1472A>T
NR_104215.1:n.1415A>T
NR_104216.1:n.671A>T
XM_011511567.1:c.1425A>T	XP_011509869.1:p.Gln475His
XM_011511568.1:c.1479A>T	XP_011509870.1:p.Gln493His
XM_017004613.1:c.1578A>T	XP_016860102.1:p.Gln526His
XM_017004614.1:c.1578A>T	XP_016860103.1:p.Gln526His
XR_002959322.1:n.1669A>T
NM_000465.4:c.1479A>T MANE Select	NP_000456.2:p.Gln493His
NM_001282543.2:c.1422A>T	NP_001269472.1:p.Gln474His
NM_001282545.2:c.216-15016A>T	NP_001269474.1:n.216-15016A>T
NM_001282548.2:c.159-15016A>T	NP_001269477.1:n.159-15016A>T
NM_001282549.2:c.364+24726A>T	NP_001269478.1:n.364+24726A>T
NR_104212.2:n.1444A>T
NR_104215.2:n.1387A>T
NR_104216.2:n.643A>T