Canonical Allele Identifier: CA444800087
Gene: MCCC2 HGNC NCBI

Linked Data

gnomAD v4: 5-71602548-A-T
MyVariant Identifiers: chr5:g.70898375A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71602548A>T , CM000667.2:g.71602548A>T GRCh38
NC_000005.9:g.70898375A>T , CM000667.1:g.70898375A>T GRCh37
NC_000005.8:g.70934131A>T NCBI36
NG_008882.1:g.20261A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000505435.4:n.496A>T
ENST00000505787.8:n.2266A>T
ENST00000509358.7:c.426A>T ENSP00000420994.3:p.Gly142=
ENST00000510895.7:n.549A>T
ENST00000629193.3:c.426A>T ENSP00000486535.2:p.Gly142=
ENST00000681968.1:c.33A>T ENSP00000508143.1:p.Gly11=
ENST00000682045.1:c.282A>T ENSP00000507329.1:p.Gly94=
ENST00000682214.1:c.33A>T ENSP00000507336.1:p.Gly11=
ENST00000682499.1:n.1247A>T
ENST00000682541.1:c.426A>T ENSP00000507673.1:p.Gly142=
ENST00000682687.1:c.426A>T ENSP00000507945.1:p.Gly142=
ENST00000682727.1:c.426A>T ENSP00000507393.1:p.Gly142=
ENST00000682876.1:c.426A>T ENSP00000508389.1:p.Gly142=
ENST00000683098.1:c.426A>T ENSP00000507670.1:p.Gly142=
ENST00000683258.1:c.*147A>T ENSP00000507448.1:n.*147A>T
ENST00000683339.1:c.324A>T ENSP00000507758.1:p.Gly108=
ENST00000683403.1:c.426A>T ENSP00000507896.1:p.Gly142=
ENST00000683429.1:c.33A>T ENSP00000507697.1:p.Gly11=
ENST00000683665.1:c.426A>T ENSP00000507068.1:p.Gly142=
ENST00000683789.1:c.426A>T ENSP00000507012.1:p.Gly142=
ENST00000683882.1:c.426A>T ENSP00000506735.1:p.Gly142=
ENST00000684024.1:c.*97A>T ENSP00000507175.1:n.*97A>T
ENST00000684254.1:c.*152A>T ENSP00000508001.1:n.*152A>T
ENST00000340941.11:c.426A>T MANE Select ENSP00000343657.6:p.Gly142=
ENST00000340941.10:c.426A>T ENSP00000343657.6:p.Gly142=
ENST00000505787.7:n.240A>T
ENST00000507169.5:n.352A>T
ENST00000509358.6:c.426A>T ENSP00000420994.2:p.Gly142=
ENST00000510895.6:n.40A>T
ENST00000512218.6:c.426A>T ENSP00000423202.2:p.Gly142=
ENST00000629193.2:c.426A>T ENSP00000486535.1:p.Gly142=
NM_022132.4:c.426A>T NP_071415.1:p.Gly142=
XM_005248567.1:c.426A>T XP_005248624.1:p.Gly142=
XM_011543528.1:c.426A>T XP_011541830.1:p.Gly142=
XM_011543529.1:c.426A>T XP_011541831.1:p.Gly142=
NM_001363147.1:c.426A>T NP_001350076.1:p.Gly142=
XM_011543529.2:c.426A>T XP_011541831.1:p.Gly142=
XM_017009688.1:c.426A>T XP_016865177.1:p.Gly142=
XR_001742172.1:n.466A>T
NM_022132.5:c.426A>T MANE Select NP_071415.1:p.Gly142=