Canonical Allele Identifier: CA7750582

Gene: MCTP2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.94478988T>C , CM000677.2:g.94478988T>C	GRCh38
NC_000015.9:g.95022217T>C , CM000677.1:g.95022217T>C	GRCh37
NC_000015.8:g.92823221T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357742.10:c.2591T>C MANE Select	ENSP00000350377.4:p.Leu864Pro
ENST00000357742.9:c.2591T>C	ENSP00000350377.4:p.Leu864Pro
ENST00000357742.8:c.2591T>C	ENSP00000350377.4:p.Leu864Pro
ENST00000449432.3:n.241T>C
ENST00000451018.7:c.2426T>C	ENSP00000395109.3:p.Leu809Pro
ENST00000456504.5:c.*2129T>C	ENSP00000388887.1:n.*2129T>C
NM_001159643.1:c.2426T>C	NP_001153115.1:p.Leu809Pro
NM_018349.3:c.2591T>C	NP_060819.3:p.Leu864Pro
XM_005254955.2:c.2591T>C	XP_005255012.1:p.Leu864Pro
XM_005254960.1:c.1355T>C	XP_005255017.1:p.Leu452Pro
XM_006720603.2:c.2591T>C	XP_006720666.1:p.Leu864Pro
XM_011521770.1:c.2468T>C	XP_011520072.1:p.Leu823Pro
XM_011521771.1:c.2591T>C	XP_011520073.1:p.Leu864Pro
XM_011521772.1:c.2591T>C	XP_011520074.1:p.Leu864Pro
XM_011521775.1:c.1475T>C	XP_011520077.1:p.Leu492Pro
XM_005254955.4:c.2591T>C	XP_005255012.1:p.Leu864Pro
XM_005254960.2:c.1355T>C	XP_005255017.1:p.Leu452Pro
XM_011521771.2:c.2591T>C	XP_011520073.1:p.Leu864Pro
XM_011521772.2:c.2591T>C	XP_011520074.1:p.Leu864Pro
XM_011521775.2:c.1475T>C	XP_011520077.1:p.Leu492Pro
XM_017022403.1:c.2555T>C	XP_016877892.1:p.Leu852Pro
XM_017022404.1:c.2426T>C	XP_016877893.1:p.Leu809Pro
XM_017022405.1:c.2426T>C	XP_016877894.1:p.Leu809Pro
XM_024449982.1:c.2309T>C	XP_024305750.1:p.Leu770Pro
NM_001159643.2:c.2426T>C	NP_001153115.1:p.Leu809Pro
NM_001385001.1:c.2591T>C MANE Select	NP_001371930.1:p.Leu864Pro
NM_001385002.1:c.2591T>C	NP_001371931.1:p.Leu864Pro
NM_001385003.1:c.2591T>C	NP_001371932.1:p.Leu864Pro
NM_001385004.1:c.2426T>C	NP_001371933.1:p.Leu809Pro
NM_001385005.1:c.2549T>C	NP_001371934.1:p.Leu850Pro
NM_001385006.1:c.2468T>C	NP_001371935.1:p.Leu823Pro
NM_001385007.1:c.2309T>C	NP_001371936.1:p.Leu770Pro
NM_001385009.1:c.2093T>C	NP_001371938.1:p.Leu698Pro
NM_001385010.1:c.1928T>C	NP_001371939.1:p.Leu643Pro
NM_018349.4:c.2591T>C	NP_060819.3:p.Leu864Pro
NR_169526.1:n.2695T>C
NR_169527.1:n.3098T>C
NR_169528.1:n.2733T>C
NR_169529.1:n.2998T>C
NR_169530.1:n.3094T>C
NR_169531.1:n.2882T>C
NR_169532.1:n.3239T>C