Canonical Allele Identifier: CA813647577

Gene: MCCC2

Linked Data

• dbSNP Id: rs1301051061
• gnomAD v4: 5-71635488-A-G
• MyVariant Identifiers: chr5:g.70931315A>G (hg19) ; chr5:g.71635488A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635488A>G , CM000667.2:g.71635488A>G	GRCh38
NC_000005.9:g.70931315A>G , CM000667.1:g.70931315A>G	GRCh37
NC_000005.8:g.70967071A>G	NCBI36
NG_008882.1:g.53201A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.955+242A>G
ENST00000505787.8:n.2839+242A>G
ENST00000509358.7:c.999+242A>G	ENSP00000420994.3:n.999+242A>G
ENST00000509539.3:c.261+242A>G	ENSP00000425474.3:n.261+242A>G
ENST00000510895.7:n.1364A>G
ENST00000629193.3:c.885+242A>G	ENSP00000486535.2:n.885+242A>G
ENST00000681968.1:c.492+242A>G	ENSP00000508143.1:n.492+242A>G
ENST00000682045.1:c.855+242A>G	ENSP00000507329.1:n.855+242A>G
ENST00000682214.1:c.606+242A>G	ENSP00000507336.1:n.606+242A>G
ENST00000682499.1:n.1820+242A>G
ENST00000682541.1:c.999+242A>G	ENSP00000507673.1:n.999+242A>G
ENST00000682687.1:c.999+242A>G	ENSP00000507945.1:n.999+242A>G
ENST00000682727.1:c.999+242A>G	ENSP00000507393.1:n.999+242A>G
ENST00000682876.1:c.1128+242A>G	ENSP00000508389.1:n.1128+242A>G
ENST00000683098.1:c.803+3303A>G	ENSP00000507670.1:n.803+3303A>G
ENST00000683258.1:c.*720+242A>G	ENSP00000507448.1:n.*720+242A>G
ENST00000683339.1:c.783+242A>G	ENSP00000507758.1:n.783+242A>G
ENST00000683403.1:c.909+242A>G	ENSP00000507896.1:n.909+242A>G
ENST00000683429.1:c.606+242A>G	ENSP00000507697.1:n.606+242A>G
ENST00000683665.1:c.999+242A>G	ENSP00000507068.1:n.999+242A>G
ENST00000683789.1:c.885+242A>G	ENSP00000507012.1:n.885+242A>G
ENST00000683847.1:n.843+242A>G
ENST00000683882.1:c.999+242A>G	ENSP00000506735.1:n.999+242A>G
ENST00000684024.1:c.*670+242A>G	ENSP00000507175.1:n.*670+242A>G
ENST00000684254.1:c.*725+242A>G	ENSP00000508001.1:n.*725+242A>G
ENST00000684310.1:c.165+446A>G	ENSP00000507550.1:n.165+446A>G
ENST00000684530.1:c.261+242A>G	ENSP00000507439.1:n.261+242A>G
ENST00000684652.1:n.2243A>G
ENST00000340941.11:c.999+242A>G MANE Select	ENSP00000343657.6:n.999+242A>G
ENST00000340941.10:c.999+242A>G	ENSP00000343657.6:n.999+242A>G
ENST00000505435.3:n.350+242A>G
ENST00000509358.6:c.999+242A>G	ENSP00000420994.2:n.999+242A>G
ENST00000509539.2:c.324+242A>G	ENSP00000425474.2:n.324+242A>G
ENST00000510895.6:n.855A>G
ENST00000512218.6:c.885+242A>G	ENSP00000423202.2:n.885+242A>G
ENST00000629193.2:c.885+242A>G	ENSP00000486535.1:n.885+242A>G
NM_022132.4:c.999+242A>G	NP_071415.1:n.999+242A>G
XM_005248567.1:c.885+242A>G	XP_005248624.1:n.885+242A>G
XM_011543528.1:c.999+242A>G	XP_011541830.1:n.999+242A>G
XM_011543529.1:c.999+242A>G	XP_011541831.1:n.999+242A>G
NM_001363147.1:c.885+242A>G	NP_001350076.1:n.885+242A>G
XM_011543529.2:c.999+242A>G	XP_011541831.1:n.999+242A>G
XM_017009688.1:c.999+242A>G	XP_016865177.1:n.999+242A>G
XR_001742172.1:n.1039+242A>G
NM_022132.5:c.999+242A>G MANE Select	NP_071415.1:n.999+242A>G