Canonical Allele Identifier: CA359987700

Gene: MCCC2

Linked Data

• dbSNP Id: rs1319045043
• gnomAD v2: 5-70931033-T-G
• gnomAD v4: 5-71635206-T-G
• MyVariant Identifiers: chr5:g.70931033T>G (hg19) ; chr5:g.71635206T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635206T>G , CM000667.2:g.71635206T>G	GRCh38
NC_000005.9:g.70931033T>G , CM000667.1:g.70931033T>G	GRCh37
NC_000005.8:g.70966789T>G	NCBI36
NG_008882.1:g.52919T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.915T>G
ENST00000505787.8:n.2799T>G
ENST00000509358.7:c.959T>G	ENSP00000420994.3:p.Ile320Arg
ENST00000509539.3:c.221T>G	ENSP00000425474.3:p.Ile74Arg
ENST00000510895.7:n.1082T>G
ENST00000629193.3:c.845T>G	ENSP00000486535.2:p.Ile282Arg
ENST00000681968.1:c.452T>G	ENSP00000508143.1:p.Ile151Arg
ENST00000682045.1:c.815T>G	ENSP00000507329.1:p.Ile272Arg
ENST00000682214.1:c.566T>G	ENSP00000507336.1:p.Ile189Arg
ENST00000682499.1:n.1780T>G
ENST00000682541.1:c.959T>G	ENSP00000507673.1:p.Ile320Arg
ENST00000682687.1:c.959T>G	ENSP00000507945.1:p.Ile320Arg
ENST00000682727.1:c.959T>G	ENSP00000507393.1:p.Ile320Arg
ENST00000682876.1:c.1088T>G	ENSP00000508389.1:p.Ile363Arg
ENST00000683098.1:c.803+3021T>G	ENSP00000507670.1:n.803+3021T>G
ENST00000683258.1:c.*680T>G	ENSP00000507448.1:n.*680T>G
ENST00000683339.1:c.743T>G	ENSP00000507758.1:p.Ile248Arg
ENST00000683403.1:c.869T>G	ENSP00000507896.1:p.Ile290Arg
ENST00000683429.1:c.566T>G	ENSP00000507697.1:p.Ile189Arg
ENST00000683665.1:c.959T>G	ENSP00000507068.1:p.Ile320Arg
ENST00000683789.1:c.845T>G	ENSP00000507012.1:p.Ile282Arg
ENST00000683847.1:n.803T>G
ENST00000683882.1:c.959T>G	ENSP00000506735.1:p.Ile320Arg
ENST00000684024.1:c.*630T>G	ENSP00000507175.1:n.*630T>G
ENST00000684254.1:c.*685T>G	ENSP00000508001.1:n.*685T>G
ENST00000684310.1:c.165+164T>G	ENSP00000507550.1:n.165+164T>G
ENST00000684530.1:c.221T>G	ENSP00000507439.1:p.Ile74Arg
ENST00000684652.1:n.1961T>G
ENST00000340941.11:c.959T>G MANE Select	ENSP00000343657.6:p.Ile320Arg
ENST00000340941.10:c.959T>G	ENSP00000343657.6:p.Ile320Arg
ENST00000505435.3:n.310T>G
ENST00000509358.6:c.959T>G	ENSP00000420994.2:p.Ile320Arg
ENST00000509539.2:c.284T>G	ENSP00000425474.2:p.Ile95Arg
ENST00000510895.6:n.573T>G
ENST00000512218.6:c.845T>G	ENSP00000423202.2:p.Ile282Arg
ENST00000629193.2:c.845T>G	ENSP00000486535.1:p.Ile282Arg
NM_022132.4:c.959T>G	NP_071415.1:p.Ile320Arg
XM_005248567.1:c.845T>G	XP_005248624.1:p.Ile282Arg
XM_011543528.1:c.959T>G	XP_011541830.1:p.Ile320Arg
XM_011543529.1:c.959T>G	XP_011541831.1:p.Ile320Arg
NM_001363147.1:c.845T>G	NP_001350076.1:p.Ile282Arg
XM_011543529.2:c.959T>G	XP_011541831.1:p.Ile320Arg
XM_017009688.1:c.959T>G	XP_016865177.1:p.Ile320Arg
XR_001742172.1:n.999T>G
NM_022132.5:c.959T>G MANE Select	NP_071415.1:p.Ile320Arg