Canonical Allele Identifier: CA7749833
Gene: MCTP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.94356159G>A , CM000677.2:g.94356159G>A GRCh38
NC_000015.9:g.94899388G>A , CM000677.1:g.94899388G>A GRCh37
NC_000015.8:g.92700392G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000357742.10:c.1028G>A MANE Select ENSP00000350377.4:p.Arg343Gln
ENST00000357742.9:c.1028G>A ENSP00000350377.4:p.Arg343Gln
ENST00000357742.8:c.1028G>A ENSP00000350377.4:p.Arg343Gln
ENST00000451018.7:c.1028G>A ENSP00000395109.3:p.Arg343Gln
ENST00000456504.5:c.*566G>A ENSP00000388887.1:n.*566G>A
ENST00000543482.5:c.1028G>A ENSP00000438521.1:p.Arg343Gln
ENST00000557742.1:c.-144G>A ENSP00000454847.1:n.-144G>A
NM_001159643.1:c.1028G>A NP_001153115.1:p.Arg343Gln
NM_001159644.1:c.-144G>A NP_001153116.1:n.-144G>A
NM_018349.3:c.1028G>A NP_060819.3:p.Arg343Gln
XM_005254955.2:c.1028G>A XP_005255012.1:p.Arg343Gln
XM_005254960.1:c.-144G>A XP_005255017.1:n.-144G>A
XM_006720603.2:c.1028G>A XP_006720666.1:p.Arg343Gln
XM_011521770.1:c.1028G>A XP_011520072.1:p.Arg343Gln
XM_011521771.1:c.1028G>A XP_011520073.1:p.Arg343Gln
XM_011521772.1:c.1028G>A XP_011520074.1:p.Arg343Gln
XM_011521773.1:c.1028G>A XP_011520075.1:p.Arg343Gln
XM_011521774.1:c.1028G>A XP_011520076.1:p.Arg343Gln
XM_011521775.1:c.-89G>A XP_011520077.1:n.-89G>A
XR_931865.1:n.1093G>A
XM_005254955.4:c.1028G>A XP_005255012.1:p.Arg343Gln
XM_005254960.2:c.-144G>A XP_005255017.1:n.-144G>A
XM_011521771.2:c.1028G>A XP_011520073.1:p.Arg343Gln
XM_011521772.2:c.1028G>A XP_011520074.1:p.Arg343Gln
XM_011521773.2:c.1028G>A XP_011520075.1:p.Arg343Gln
XM_011521774.2:c.1028G>A XP_011520076.1:p.Arg343Gln
XM_011521775.2:c.-89G>A XP_011520077.1:n.-89G>A
XM_017022403.1:c.992G>A XP_016877892.1:p.Arg331Gln
XM_017022404.1:c.1028G>A XP_016877893.1:p.Arg343Gln
XM_017022405.1:c.1028G>A XP_016877894.1:p.Arg343Gln
XM_024449982.1:c.746G>A XP_024305750.1:p.Arg249Gln
XR_001751349.2:n.1093G>A
XR_931865.2:n.1093G>A
NM_001159644.2:c.-144G>A NP_001153116.1:n.-144G>A
NM_001159643.2:c.1028G>A NP_001153115.1:p.Arg343Gln
NM_001385001.1:c.1028G>A MANE Select NP_001371930.1:p.Arg343Gln
NM_001385002.1:c.1028G>A NP_001371931.1:p.Arg343Gln
NM_001385003.1:c.1028G>A NP_001371932.1:p.Arg343Gln
NM_001385004.1:c.1028G>A NP_001371933.1:p.Arg343Gln
NM_001385005.1:c.1028G>A NP_001371934.1:p.Arg343Gln
NM_001385006.1:c.1028G>A NP_001371935.1:p.Arg343Gln
NM_001385007.1:c.746G>A NP_001371936.1:p.Arg249Gln
NM_001385008.1:c.1028G>A NP_001371937.1:p.Arg343Gln
NM_001385009.1:c.530G>A NP_001371938.1:p.Arg177Gln
NM_001385010.1:c.530G>A NP_001371939.1:p.Arg177Gln
NM_001385011.1:c.710G>A NP_001371940.1:p.Arg237Gln
NM_018349.4:c.1028G>A NP_060819.3:p.Arg343Gln
NR_169526.1:n.1197G>A
NR_169527.1:n.1307G>A
NR_169528.1:n.1335G>A
NR_169529.1:n.1307G>A
NR_169530.1:n.1307G>A
NR_169531.1:n.1197G>A
NR_169532.1:n.1676G>A