Canonical Allele Identifier: CA350452365

Gene: BARD1

Linked Data

• ClinVar Variation Id: 584630
• ClinVar RCV Id: RCV000708902 ; RCV003327454
• dbSNP Id: rs1559386300
• MyVariant Identifiers: chr2:g.215609878G>A (hg19) ; chr2:g.214745154G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745154G>A , CM000664.2:g.214745154G>A	GRCh38
NC_000002.11:g.215609878G>A , CM000664.1:g.215609878G>A	GRCh37
NC_000002.10:g.215318123G>A	NCBI36
NG_012047.2:g.69551C>T
NG_012047.3:g.69558C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1816C>T MANE Select	ENSP00000260947.4:p.His606Tyr
ENST00000421162.2:c.463C>T	ENSP00000392245.2:p.His155Tyr
ENST00000613192.2:c.159-14646C>T	ENSP00000483275.2:n.159-14646C>T
ENST00000613374.5:c.406C>T	ENSP00000484464.1:p.His136Tyr
ENST00000613706.5:c.1408C>T	ENSP00000484976.2:p.His470Tyr
ENST00000617164.5:c.1759C>T	ENSP00000480470.1:p.His587Tyr
ENST00000619009.5:c.365-14646C>T	ENSP00000482293.1:n.365-14646C>T
ENST00000650978.1:c.3191C>T
ENST00000260947.8:c.1816C>T	ENSP00000260947.4:p.His606Tyr
ENST00000421162.1:c.463C>T	ENSP00000392245.1:p.His155Tyr
ENST00000455743.5:c.*1436C>T	ENSP00000412186.1:n.*1436C>T
ENST00000613192.1:c.74-14646C>T	ENSP00000483275.1:n.74-14646C>T
ENST00000613374.4:c.406C>T	ENSP00000484464.1:p.His136Tyr
ENST00000613706.4:c.463C>T	ENSP00000484976.1:p.His155Tyr
ENST00000617164.4:c.1759C>T	ENSP00000480470.1:p.His587Tyr
ENST00000619009.4:c.365-14646C>T	ENSP00000482293.1:n.365-14646C>T
ENST00000620057.4:c.*482C>T	ENSP00000481988.1:n.*482C>T
NM_000465.3:c.1816C>T	NP_000456.2:p.His606Tyr
NM_001282543.1:c.1759C>T	NP_001269472.1:p.His587Tyr
NM_001282545.1:c.463C>T	NP_001269474.1:p.His155Tyr
NM_001282548.1:c.406C>T	NP_001269477.1:p.His136Tyr
NM_001282549.1:c.365-14646C>T	NP_001269478.1:n.365-14646C>T
NR_104212.1:n.1809C>T
NR_104215.1:n.1752C>T
NR_104216.1:n.1008C>T
XM_011511567.1:c.1762C>T	XP_011509869.1:p.His588Tyr
XM_011511568.1:c.1816C>T	XP_011509870.1:p.His606Tyr
XM_017004613.1:c.1915C>T	XP_016860102.1:p.His639Tyr
XM_017004614.1:c.1915C>T	XP_016860103.1:p.His639Tyr
XR_002959322.1:n.2006C>T
NM_000465.4:c.1816C>T MANE Select	NP_000456.2:p.His606Tyr
NM_001282543.2:c.1759C>T	NP_001269472.1:p.His587Tyr
NM_001282545.2:c.463C>T	NP_001269474.1:p.His155Tyr
NM_001282548.2:c.406C>T	NP_001269477.1:p.His136Tyr
NM_001282549.2:c.365-14646C>T	NP_001269478.1:n.365-14646C>T
NR_104212.2:n.1781C>T
NR_104215.2:n.1724C>T
NR_104216.2:n.980C>T