Canonical Allele Identifier: CA2674167227
Gene: MCCC2 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71646138G>A , CM000667.2:g.71646138G>A GRCh38
NC_000005.9:g.70941965G>A , CM000667.1:g.70941965G>A GRCh37
NC_000005.8:g.70977721G>A NCBI36
NG_008882.1:g.63851G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000505435.4:n.2758-73G>A
ENST00000505787.8:n.2981-73G>A
ENST00000509539.3:c.476-73G>A ENSP00000425474.3:n.476-73G>A
ENST00000681968.1:c.643-73G>A ENSP00000508143.1:n.643-73G>A
ENST00000681991.1:n.1234-73G>A
ENST00000682045.1:c.1006-73G>A ENSP00000507329.1:n.1006-73G>A
ENST00000682214.1:c.757-73G>A ENSP00000507336.1:n.757-73G>A
ENST00000682231.1:n.168-73G>A
ENST00000682438.1:n.3076G>A
ENST00000682499.1:n.1971-73G>A
ENST00000682541.1:c.*48-73G>A ENSP00000507673.1:n.*48-73G>A
ENST00000682640.1:n.854-73G>A
ENST00000682667.1:n.1315-73G>A
ENST00000682687.1:c.*102-73G>A ENSP00000507945.1:n.*102-73G>A
ENST00000682727.1:c.1141-73G>A ENSP00000507393.1:n.1141-73G>A
ENST00000682876.1:c.1279-73G>A ENSP00000508389.1:n.1279-73G>A
ENST00000683098.1:c.804-73G>A ENSP00000507670.1:n.804-73G>A
ENST00000683258.1:c.*871-73G>A ENSP00000507448.1:n.*871-73G>A
ENST00000683339.1:c.934-73G>A ENSP00000507758.1:n.934-73G>A
ENST00000683403.1:c.1060-73G>A ENSP00000507896.1:n.1060-73G>A
ENST00000683429.1:c.757-73G>A ENSP00000507697.1:n.757-73G>A
ENST00000683789.1:c.1036-73G>A ENSP00000507012.1:n.1036-73G>A
ENST00000683847.1:n.1320-73G>A
ENST00000683882.1:c.*91-73G>A ENSP00000506735.1:n.*91-73G>A
ENST00000684024.1:c.*821-73G>A ENSP00000507175.1:n.*821-73G>A
ENST00000684132.1:c.78-73G>A
ENST00000684254.1:c.*876-73G>A ENSP00000508001.1:n.*876-73G>A
ENST00000684310.1:c.316-73G>A ENSP00000507550.1:n.316-73G>A
ENST00000684474.1:n.786-73G>A
ENST00000684530.1:c.335-2959G>A ENSP00000507439.1:n.335-2959G>A
ENST00000684686.1:n.769-73G>A
ENST00000340941.11:c.1150-73G>A MANE Select ENSP00000343657.6:n.1150-73G>A
ENST00000340941.10:c.1150-73G>A ENSP00000343657.6:n.1150-73G>A
ENST00000509539.2:c.466-73G>A ENSP00000425474.2:n.466-73G>A
ENST00000512218.6:c.*102-73G>A ENSP00000423202.2:n.*102-73G>A
NM_022132.4:c.1150-73G>A NP_071415.1:n.1150-73G>A
XM_005248567.1:c.1036-73G>A XP_005248624.1:n.1036-73G>A
NM_001363147.1:c.1036-73G>A NP_001350076.1:n.1036-73G>A
XR_001742172.1:n.1238-73G>A
NM_022132.5:c.1150-73G>A MANE Select NP_071415.1:n.1150-73G>A