Canonical Allele Identifier: CA1351792
Gene: CNTN2 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.205072492G>A , CM000663.2:g.205072492G>A GRCh38
NC_000001.10:g.205041620G>A , CM000663.1:g.205041620G>A GRCh37
NC_000001.9:g.203308243G>A NCBI36
NG_033845.1:g.34281G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331830.7:c.2741G>A MANE Select ENSP00000330633.4:p.Arg914Gln
ENST00000525433.2:n.1623G>A
ENST00000636312.2:c.2211G>A
ENST00000638378.1:c.2741G>A ENSP00000492617.1:p.Arg914Gln
ENST00000638577.1:c.978G>A
ENST00000638715.1:n.1014G>A
ENST00000639023.1:n.2432G>A
ENST00000639122.1:c.1807G>A
ENST00000639302.1:c.2741G>A ENSP00000491671.1:p.Arg914Gln
ENST00000639788.1:n.900G>A
ENST00000639843.1:c.1411G>A
ENST00000639971.1:c.*387G>A ENSP00000491959.1:n.*387G>A
ENST00000640227.1:n.717G>A
ENST00000640326.1:c.2741G>A ENSP00000492495.1:p.Arg914Gln
ENST00000640352.1:c.*3539G>A ENSP00000491080.1:n.*3539G>A
ENST00000640428.1:c.2741G>A ENSP00000491474.1:p.Arg914Gln
ENST00000331830.4:c.2741G>A ENSP00000330633.4:p.Arg914Gln
ENST00000481872.6:n.2733G>A
ENST00000525433.1:n.109G>A
NM_005076.3:c.2741G>A NP_005067.1:p.Arg914Gln
XM_011509925.1:c.2726G>A XP_011508227.1:p.Arg909Gln
NM_001346083.1:c.2741G>A NP_001333012.1:p.Arg914Gln
NM_005076.4:c.2741G>A NP_005067.1:p.Arg914Gln
NR_144350.1:n.3039G>A
XM_017002198.1:c.2741G>A XP_016857687.1:p.Arg914Gln
XM_017002199.2:c.2726G>A XP_016857688.1:p.Arg909Gln
XM_024449386.1:c.2780G>A XP_024305154.1:p.Arg927Gln
XM_024449387.1:c.2414G>A XP_024305155.1:p.Arg805Gln
XM_024449388.1:c.2414G>A XP_024305156.1:p.Arg805Gln
XM_024449389.1:c.2780G>A XP_024305157.1:p.Arg927Gln
NM_005076.5:c.2741G>A MANE Select NP_005067.1:p.Arg914Gln
NM_001346083.2:c.2741G>A NP_001333012.1:p.Arg914Gln
NR_144350.2:n.2951G>A