Canonical Allele Identifier: CA312689
Gene: MCCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71641068A>T , CM000667.2:g.71641068A>T GRCh38
NC_000005.9:g.70936895A>T , CM000667.1:g.70936895A>T GRCh37
NC_000005.8:g.70972651A>T NCBI36
NG_008882.1:g.58781A>T

Transcript Alleles

HGVS Amino-acid Change
NM_022132.5:c.1065A>T MANE Select NP_071415.1:p.Leu355Phe
ENST00000340941.11:c.1065A>T MANE Select ENSP00000343657.6:p.Leu355Phe
NM_001363147.1:c.951A>T NP_001350076.1:p.Leu317Phe
NM_022132.4:c.1065A>T NP_071415.1:p.Leu355Phe
ENST00000340941.10:c.1065A>T ENSP00000343657.6:p.Leu355Phe
ENST00000505435.3:n.416A>T
ENST00000505435.4:n.1021A>T
ENST00000505787.8:n.2904-2751A>T
ENST00000509358.6:c.1065A>T ENSP00000420994.2:p.Leu355Phe
ENST00000509358.7:c.*55A>T ENSP00000420994.3:n.*55A>T
ENST00000509539.2:c.389-2751A>T ENSP00000425474.2:n.389-2751A>T
ENST00000509539.3:c.327A>T ENSP00000425474.3:p.Leu109Phe
ENST00000512218.6:c.951A>T ENSP00000423202.2:p.Leu317Phe
ENST00000629193.2:c.951A>T ENSP00000486535.1:p.Leu317Phe
ENST00000629193.3:c.951A>T ENSP00000486535.2:p.Leu317Phe
ENST00000681968.1:c.558A>T ENSP00000508143.1:p.Leu186Phe
ENST00000681991.1:n.1149A>T
ENST00000682045.1:c.921A>T ENSP00000507329.1:p.Leu307Phe
ENST00000682214.1:c.672A>T ENSP00000507336.1:p.Leu224Phe
ENST00000682231.1:n.83A>T
ENST00000682499.1:n.1886A>T
ENST00000682541.1:c.1000-2751A>T ENSP00000507673.1:n.1000-2751A>T
ENST00000682667.1:n.1257A>T
ENST00000682687.1:c.1065A>T ENSP00000507945.1:p.Leu355Phe
ENST00000682727.1:c.1064-2751A>T ENSP00000507393.1:n.1064-2751A>T
ENST00000682876.1:c.1194A>T ENSP00000508389.1:p.Leu398Phe
ENST00000683098.1:c.804-5143A>T ENSP00000507670.1:n.804-5143A>T
ENST00000683258.1:c.*786A>T ENSP00000507448.1:n.*786A>T
ENST00000683339.1:c.849A>T ENSP00000507758.1:p.Leu283Phe
ENST00000683403.1:c.975A>T ENSP00000507896.1:p.Leu325Phe
ENST00000683429.1:c.672A>T ENSP00000507697.1:p.Leu224Phe
ENST00000683665.1:c.1065A>T ENSP00000507068.1:p.Leu355Phe
ENST00000683789.1:c.951A>T ENSP00000507012.1:p.Leu317Phe
ENST00000683847.1:n.1067A>T
ENST00000683882.1:c.1065A>T ENSP00000506735.1:p.Leu355Phe
ENST00000684024.1:c.*736A>T ENSP00000507175.1:n.*736A>T
ENST00000684254.1:c.*791A>T ENSP00000508001.1:n.*791A>T
ENST00000684310.1:c.231A>T ENSP00000507550.1:p.Leu77Phe
ENST00000684474.1:n.653A>T
ENST00000684530.1:c.327A>T ENSP00000507439.1:p.Leu109Phe
ENST00000684686.1:n.684A>T
XM_005248567.1:c.951A>T XP_005248624.1:p.Leu317Phe
XM_011543528.1:c.1065A>T XP_011541830.1:p.Leu355Phe
XM_017009688.1:c.1064-2703A>T XP_016865177.1:n.1064-2703A>T
XR_001742172.1:n.1105A>T