Canonical Allele Identifier: CA2674165836
Gene: MCCC2 HGNC NCBI

Linked Data

gnomAD v4: 5-71635111-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71635111C>A , CM000667.2:g.71635111C>A GRCh38
NC_000005.9:g.70930938C>A , CM000667.1:g.70930938C>A GRCh37
NC_000005.8:g.70966694C>A NCBI36
NG_008882.1:g.52824C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000505435.4:n.860-40C>A
ENST00000505787.8:n.2744-40C>A
ENST00000509358.7:c.904-40C>A ENSP00000420994.3:n.904-40C>A
ENST00000509539.3:c.166-40C>A ENSP00000425474.3:n.166-40C>A
ENST00000510895.7:n.1027-40C>A
ENST00000629193.3:c.790-40C>A ENSP00000486535.2:n.790-40C>A
ENST00000681968.1:c.397-40C>A ENSP00000508143.1:n.397-40C>A
ENST00000682045.1:c.760-40C>A ENSP00000507329.1:n.760-40C>A
ENST00000682214.1:c.511-40C>A ENSP00000507336.1:n.511-40C>A
ENST00000682499.1:n.1725-40C>A
ENST00000682541.1:c.904-40C>A ENSP00000507673.1:n.904-40C>A
ENST00000682687.1:c.904-40C>A ENSP00000507945.1:n.904-40C>A
ENST00000682727.1:c.904-40C>A ENSP00000507393.1:n.904-40C>A
ENST00000682876.1:c.1033-40C>A ENSP00000508389.1:n.1033-40C>A
ENST00000683098.1:c.803+2926C>A ENSP00000507670.1:n.803+2926C>A
ENST00000683258.1:c.*625-40C>A ENSP00000507448.1:n.*625-40C>A
ENST00000683339.1:c.688-40C>A ENSP00000507758.1:n.688-40C>A
ENST00000683403.1:c.814-40C>A ENSP00000507896.1:n.814-40C>A
ENST00000683429.1:c.511-40C>A ENSP00000507697.1:n.511-40C>A
ENST00000683665.1:c.904-40C>A ENSP00000507068.1:n.904-40C>A
ENST00000683789.1:c.790-40C>A ENSP00000507012.1:n.790-40C>A
ENST00000683847.1:n.748-40C>A
ENST00000683882.1:c.904-40C>A ENSP00000506735.1:n.904-40C>A
ENST00000684024.1:c.*575-40C>A ENSP00000507175.1:n.*575-40C>A
ENST00000684254.1:c.*630-40C>A ENSP00000508001.1:n.*630-40C>A
ENST00000684310.1:c.165+69C>A ENSP00000507550.1:n.165+69C>A
ENST00000684530.1:c.166-40C>A ENSP00000507439.1:n.166-40C>A
ENST00000684652.1:n.1906-40C>A
ENST00000340941.11:c.904-40C>A MANE Select ENSP00000343657.6:n.904-40C>A
ENST00000340941.10:c.904-40C>A ENSP00000343657.6:n.904-40C>A
ENST00000505435.3:n.255-40C>A
ENST00000509358.6:c.904-40C>A ENSP00000420994.2:n.904-40C>A
ENST00000509539.2:c.229-40C>A ENSP00000425474.2:n.229-40C>A
ENST00000510895.6:n.518-40C>A
ENST00000512218.6:c.790-40C>A ENSP00000423202.2:n.790-40C>A
ENST00000629193.2:c.790-40C>A ENSP00000486535.1:n.790-40C>A
NM_022132.4:c.904-40C>A NP_071415.1:n.904-40C>A
XM_005248567.1:c.790-40C>A XP_005248624.1:n.790-40C>A
XM_011543528.1:c.904-40C>A XP_011541830.1:n.904-40C>A
XM_011543529.1:c.904-40C>A XP_011541831.1:n.904-40C>A
NM_001363147.1:c.790-40C>A NP_001350076.1:n.790-40C>A
XM_011543529.2:c.904-40C>A XP_011541831.1:n.904-40C>A
XM_017009688.1:c.904-40C>A XP_016865177.1:n.904-40C>A
XR_001742172.1:n.944-40C>A
NM_022132.5:c.904-40C>A MANE Select NP_071415.1:n.904-40C>A