Canonical Allele Identifier: CA360010296

Gene: MCCC2

Linked Data

• MyVariant Identifiers: chr5:g.70898351T>G (hg19) ; chr5:g.71602524T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71602524T>G , CM000667.2:g.71602524T>G	GRCh38
NC_000005.9:g.70898351T>G , CM000667.1:g.70898351T>G	GRCh37
NC_000005.8:g.70934107T>G	NCBI36
NG_008882.1:g.20237T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.472T>G
ENST00000505787.8:n.2242T>G
ENST00000509358.7:c.402T>G	ENSP00000420994.3:p.Ile134Met
ENST00000510895.7:n.525T>G
ENST00000629193.3:c.402T>G	ENSP00000486535.2:p.Ile134Met
ENST00000681968.1:c.9T>G	ENSP00000508143.1:p.Ile3Met
ENST00000682045.1:c.258T>G	ENSP00000507329.1:p.Ile86Met
ENST00000682214.1:c.9T>G	ENSP00000507336.1:p.Ile3Met
ENST00000682499.1:n.1223T>G
ENST00000682541.1:c.402T>G	ENSP00000507673.1:p.Ile134Met
ENST00000682687.1:c.402T>G	ENSP00000507945.1:p.Ile134Met
ENST00000682727.1:c.402T>G	ENSP00000507393.1:p.Ile134Met
ENST00000682876.1:c.402T>G	ENSP00000508389.1:p.Ile134Met
ENST00000683098.1:c.402T>G	ENSP00000507670.1:p.Ile134Met
ENST00000683258.1:c.*123T>G	ENSP00000507448.1:n.*123T>G
ENST00000683339.1:c.300T>G	ENSP00000507758.1:p.Ile100Met
ENST00000683403.1:c.402T>G	ENSP00000507896.1:p.Ile134Met
ENST00000683429.1:c.9T>G	ENSP00000507697.1:p.Ile3Met
ENST00000683665.1:c.402T>G	ENSP00000507068.1:p.Ile134Met
ENST00000683789.1:c.402T>G	ENSP00000507012.1:p.Ile134Met
ENST00000683882.1:c.402T>G	ENSP00000506735.1:p.Ile134Met
ENST00000684024.1:c.*73T>G	ENSP00000507175.1:n.*73T>G
ENST00000684254.1:c.*128T>G	ENSP00000508001.1:n.*128T>G
ENST00000340941.11:c.402T>G MANE Select	ENSP00000343657.6:p.Ile134Met
ENST00000340941.10:c.402T>G	ENSP00000343657.6:p.Ile134Met
ENST00000505787.7:n.216T>G
ENST00000507169.5:n.328T>G
ENST00000509358.6:c.402T>G	ENSP00000420994.2:p.Ile134Met
ENST00000510895.6:n.16T>G
ENST00000512218.6:c.402T>G	ENSP00000423202.2:p.Ile134Met
ENST00000629193.2:c.402T>G	ENSP00000486535.1:p.Ile134Met
NM_022132.4:c.402T>G	NP_071415.1:p.Ile134Met
XM_005248567.1:c.402T>G	XP_005248624.1:p.Ile134Met
XM_011543528.1:c.402T>G	XP_011541830.1:p.Ile134Met
XM_011543529.1:c.402T>G	XP_011541831.1:p.Ile134Met
NM_001363147.1:c.402T>G	NP_001350076.1:p.Ile134Met
XM_011543529.2:c.402T>G	XP_011541831.1:p.Ile134Met
XM_017009688.1:c.402T>G	XP_016865177.1:p.Ile134Met
XR_001742172.1:n.442T>G
NM_022132.5:c.402T>G MANE Select	NP_071415.1:p.Ile134Met