Canonical Allele Identifier: CA393928808
Gene: MCTP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.94470358C>G , CM000677.2:g.94470358C>G GRCh38
NC_000015.9:g.95013587C>G , CM000677.1:g.95013587C>G GRCh37
NC_000015.8:g.92814591C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000357742.10:c.2386C>G MANE Select ENSP00000350377.4:p.Leu796Val
ENST00000357742.9:c.2386C>G ENSP00000350377.4:p.Leu796Val
ENST00000357742.8:c.2386C>G ENSP00000350377.4:p.Leu796Val
ENST00000451018.7:c.2221C>G ENSP00000395109.3:p.Leu741Val
ENST00000456504.5:c.*1924C>G ENSP00000388887.1:n.*1924C>G
NM_001159643.1:c.2221C>G NP_001153115.1:p.Leu741Val
NM_018349.3:c.2386C>G NP_060819.3:p.Leu796Val
XM_005254955.2:c.2386C>G XP_005255012.1:p.Leu796Val
XM_005254960.1:c.1150C>G XP_005255017.1:p.Leu384Val
XM_006720603.2:c.2386C>G XP_006720666.1:p.Leu796Val
XM_011521770.1:c.2263C>G XP_011520072.1:p.Leu755Val
XM_011521771.1:c.2386C>G XP_011520073.1:p.Leu796Val
XM_011521772.1:c.2386C>G XP_011520074.1:p.Leu796Val
XM_011521775.1:c.1270C>G XP_011520077.1:p.Leu424Val
XR_931865.1:n.2451C>G
XM_005254955.4:c.2386C>G XP_005255012.1:p.Leu796Val
XM_005254960.2:c.1150C>G XP_005255017.1:p.Leu384Val
XM_011521771.2:c.2386C>G XP_011520073.1:p.Leu796Val
XM_011521772.2:c.2386C>G XP_011520074.1:p.Leu796Val
XM_011521775.2:c.1270C>G XP_011520077.1:p.Leu424Val
XM_017022403.1:c.2350C>G XP_016877892.1:p.Leu784Val
XM_017022404.1:c.2221C>G XP_016877893.1:p.Leu741Val
XM_017022405.1:c.2221C>G XP_016877894.1:p.Leu741Val
XM_024449982.1:c.2104C>G XP_024305750.1:p.Leu702Val
XR_931865.2:n.2451C>G
NM_001159643.2:c.2221C>G NP_001153115.1:p.Leu741Val
NM_001385001.1:c.2386C>G MANE Select NP_001371930.1:p.Leu796Val
NM_001385002.1:c.2386C>G NP_001371931.1:p.Leu796Val
NM_001385003.1:c.2386C>G NP_001371932.1:p.Leu796Val
NM_001385004.1:c.2221C>G NP_001371933.1:p.Leu741Val
NM_001385005.1:c.2344C>G NP_001371934.1:p.Leu782Val
NM_001385006.1:c.2263C>G NP_001371935.1:p.Leu755Val
NM_001385007.1:c.2104C>G NP_001371936.1:p.Leu702Val
NM_001385009.1:c.1888C>G NP_001371938.1:p.Leu630Val
NM_001385010.1:c.1723C>G NP_001371939.1:p.Leu575Val
NM_018349.4:c.2386C>G NP_060819.3:p.Leu796Val
NR_169526.1:n.2490C>G
NR_169527.1:n.2893C>G
NR_169528.1:n.2528C>G
NR_169529.1:n.2793C>G
NR_169530.1:n.2889C>G
NR_169531.1:n.2677C>G
NR_169532.1:n.3034C>G