Canonical Allele Identifier: CA359987459

Gene: MCCC2

Linked Data

• MyVariant Identifiers: chr5:g.70930993T>G (hg19) ; chr5:g.71635166T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635166T>G , CM000667.2:g.71635166T>G	GRCh38
NC_000005.9:g.70930993T>G , CM000667.1:g.70930993T>G	GRCh37
NC_000005.8:g.70966749T>G	NCBI36
NG_008882.1:g.52879T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.875T>G
ENST00000505787.8:n.2759T>G
ENST00000509358.7:c.919T>G	ENSP00000420994.3:p.Ser307Ala
ENST00000509539.3:c.181T>G	ENSP00000425474.3:p.Ser61Ala
ENST00000510895.7:n.1042T>G
ENST00000629193.3:c.805T>G	ENSP00000486535.2:p.Ser269Ala
ENST00000681968.1:c.412T>G	ENSP00000508143.1:p.Ser138Ala
ENST00000682045.1:c.775T>G	ENSP00000507329.1:p.Ser259Ala
ENST00000682214.1:c.526T>G	ENSP00000507336.1:p.Ser176Ala
ENST00000682499.1:n.1740T>G
ENST00000682541.1:c.919T>G	ENSP00000507673.1:p.Ser307Ala
ENST00000682687.1:c.919T>G	ENSP00000507945.1:p.Ser307Ala
ENST00000682727.1:c.919T>G	ENSP00000507393.1:p.Ser307Ala
ENST00000682876.1:c.1048T>G	ENSP00000508389.1:p.Ser350Ala
ENST00000683098.1:c.803+2981T>G	ENSP00000507670.1:n.803+2981T>G
ENST00000683258.1:c.*640T>G	ENSP00000507448.1:n.*640T>G
ENST00000683339.1:c.703T>G	ENSP00000507758.1:p.Ser235Ala
ENST00000683403.1:c.829T>G	ENSP00000507896.1:p.Ser277Ala
ENST00000683429.1:c.526T>G	ENSP00000507697.1:p.Ser176Ala
ENST00000683665.1:c.919T>G	ENSP00000507068.1:p.Ser307Ala
ENST00000683789.1:c.805T>G	ENSP00000507012.1:p.Ser269Ala
ENST00000683847.1:n.763T>G
ENST00000683882.1:c.919T>G	ENSP00000506735.1:p.Ser307Ala
ENST00000684024.1:c.*590T>G	ENSP00000507175.1:n.*590T>G
ENST00000684254.1:c.*645T>G	ENSP00000508001.1:n.*645T>G
ENST00000684310.1:c.165+124T>G	ENSP00000507550.1:n.165+124T>G
ENST00000684530.1:c.181T>G	ENSP00000507439.1:p.Ser61Ala
ENST00000684652.1:n.1921T>G
ENST00000340941.11:c.919T>G MANE Select	ENSP00000343657.6:p.Ser307Ala
ENST00000340941.10:c.919T>G	ENSP00000343657.6:p.Ser307Ala
ENST00000505435.3:n.270T>G
ENST00000509358.6:c.919T>G	ENSP00000420994.2:p.Ser307Ala
ENST00000509539.2:c.244T>G	ENSP00000425474.2:p.Ser82Ala
ENST00000510895.6:n.533T>G
ENST00000512218.6:c.805T>G	ENSP00000423202.2:p.Ser269Ala
ENST00000629193.2:c.805T>G	ENSP00000486535.1:p.Ser269Ala
NM_022132.4:c.919T>G	NP_071415.1:p.Ser307Ala
XM_005248567.1:c.805T>G	XP_005248624.1:p.Ser269Ala
XM_011543528.1:c.919T>G	XP_011541830.1:p.Ser307Ala
XM_011543529.1:c.919T>G	XP_011541831.1:p.Ser307Ala
NM_001363147.1:c.805T>G	NP_001350076.1:p.Ser269Ala
XM_011543529.2:c.919T>G	XP_011541831.1:p.Ser307Ala
XM_017009688.1:c.919T>G	XP_016865177.1:p.Ser307Ala
XR_001742172.1:n.959T>G
NM_022132.5:c.919T>G MANE Select	NP_071415.1:p.Ser307Ala