Canonical Allele Identifier: CA350451088

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595138C>A (hg19) ; chr2:g.214730414C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730414C>A , CM000664.2:g.214730414C>A	GRCh38
NC_000002.11:g.215595138C>A , CM000664.1:g.215595138C>A	GRCh37
NC_000002.10:g.215303383C>A	NCBI36
NG_012047.2:g.84291G>T
NG_012047.3:g.84298G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1998G>T MANE Select	ENSP00000260947.4:p.Gln666His
ENST00000421162.2:c.645G>T	ENSP00000392245.2:p.Gln215His
ENST00000613192.2:c.*61G>T	ENSP00000483275.2:n.*61G>T
ENST00000613374.5:c.588G>T	ENSP00000484464.1:p.Gln196His
ENST00000613706.5:c.1590G>T	ENSP00000484976.2:p.Gln530His
ENST00000617164.5:c.1941G>T	ENSP00000480470.1:p.Gln647His
ENST00000619009.5:c.459G>T	ENSP00000482293.1:p.Gln153His
ENST00000650978.1:c.3373G>T
ENST00000260947.8:c.1998G>T	ENSP00000260947.4:p.Gln666His
ENST00000421162.1:c.645G>T	ENSP00000392245.1:p.Gln215His
ENST00000432456.5:c.95G>T
ENST00000455743.5:c.*1618G>T	ENSP00000412186.1:n.*1618G>T
ENST00000471590.5:n.333G>T
ENST00000613192.1:c.168G>T	ENSP00000483275.1:p.Gln56His
ENST00000613374.4:c.588G>T	ENSP00000484464.1:p.Gln196His
ENST00000613706.4:c.645G>T	ENSP00000484976.1:p.Gln215His
ENST00000617164.4:c.1941G>T	ENSP00000480470.1:p.Gln647His
ENST00000619009.4:c.459G>T	ENSP00000482293.1:p.Gln153His
ENST00000620057.4:c.*664G>T	ENSP00000481988.1:n.*664G>T
NM_000465.3:c.1998G>T	NP_000456.2:p.Gln666His
NM_001282543.1:c.1941G>T	NP_001269472.1:p.Gln647His
NM_001282545.1:c.645G>T	NP_001269474.1:p.Gln215His
NM_001282548.1:c.588G>T	NP_001269477.1:p.Gln196His
NM_001282549.1:c.459G>T	NP_001269478.1:p.Gln153His
NR_104212.1:n.1991G>T
NR_104215.1:n.1934G>T
NR_104216.1:n.1190G>T
XM_011511567.1:c.1944G>T	XP_011509869.1:p.Gln648His
XM_017004613.1:c.2097G>T	XP_016860102.1:p.Gln699His
XR_002959322.1:n.2188G>T
NM_000465.4:c.1998G>T MANE Select	NP_000456.2:p.Gln666His
NM_001282543.2:c.1941G>T	NP_001269472.1:p.Gln647His
NM_001282545.2:c.645G>T	NP_001269474.1:p.Gln215His
NM_001282548.2:c.588G>T	NP_001269477.1:p.Gln196His
NM_001282549.2:c.459G>T	NP_001269478.1:p.Gln153His
NR_104212.2:n.1963G>T
NR_104215.2:n.1906G>T
NR_104216.2:n.1162G>T