Canonical Allele Identifier: CA350452371

Gene: BARD1

Linked Data

• COSMIC: COSM1306399 ; COSM1306400
• MyVariant Identifiers: chr2:g.215609878G>C (hg19) ; chr2:g.214745154G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1816C>G MANE Select	ENSP00000260947.4:p.His606Asp
ENST00000421162.2:c.463C>G	ENSP00000392245.2:p.His155Asp
ENST00000613192.2:c.159-14646C>G	ENSP00000483275.2:n.159-14646C>G
ENST00000613374.5:c.406C>G	ENSP00000484464.1:p.His136Asp
ENST00000613706.5:c.1408C>G	ENSP00000484976.2:p.His470Asp
ENST00000617164.5:c.1759C>G	ENSP00000480470.1:p.His587Asp
ENST00000619009.5:c.365-14646C>G	ENSP00000482293.1:n.365-14646C>G
ENST00000650978.1:c.3191C>G
ENST00000260947.8:c.1816C>G	ENSP00000260947.4:p.His606Asp
ENST00000421162.1:c.463C>G	ENSP00000392245.1:p.His155Asp
ENST00000455743.5:c.*1436C>G	ENSP00000412186.1:n.*1436C>G
ENST00000613192.1:c.74-14646C>G	ENSP00000483275.1:n.74-14646C>G
ENST00000613374.4:c.406C>G	ENSP00000484464.1:p.His136Asp
ENST00000613706.4:c.463C>G	ENSP00000484976.1:p.His155Asp
ENST00000617164.4:c.1759C>G	ENSP00000480470.1:p.His587Asp
ENST00000619009.4:c.365-14646C>G	ENSP00000482293.1:n.365-14646C>G
ENST00000620057.4:c.*482C>G	ENSP00000481988.1:n.*482C>G
NM_000465.3:c.1816C>G	NP_000456.2:p.His606Asp
NM_001282543.1:c.1759C>G	NP_001269472.1:p.His587Asp
NM_001282545.1:c.463C>G	NP_001269474.1:p.His155Asp
NM_001282548.1:c.406C>G	NP_001269477.1:p.His136Asp
NM_001282549.1:c.365-14646C>G	NP_001269478.1:n.365-14646C>G
NR_104212.1:n.1809C>G
NR_104215.1:n.1752C>G
NR_104216.1:n.1008C>G
XM_011511567.1:c.1762C>G	XP_011509869.1:p.His588Asp
XM_011511568.1:c.1816C>G	XP_011509870.1:p.His606Asp
XM_017004613.1:c.1915C>G	XP_016860102.1:p.His639Asp
XM_017004614.1:c.1915C>G	XP_016860103.1:p.His639Asp
XR_002959322.1:n.2006C>G
NM_000465.4:c.1816C>G MANE Select	NP_000456.2:p.His606Asp
NM_001282543.2:c.1759C>G	NP_001269472.1:p.His587Asp
NM_001282545.2:c.463C>G	NP_001269474.1:p.His155Asp
NM_001282548.2:c.406C>G	NP_001269477.1:p.His136Asp
NM_001282549.2:c.365-14646C>G	NP_001269478.1:n.365-14646C>G
NR_104212.2:n.1781C>G
NR_104215.2:n.1724C>G
NR_104216.2:n.980C>G