Canonical Allele Identifier: CA359987021

Gene: MCCC2

Linked Data

• dbSNP Id: rs1746868690
• gnomAD v4: 5-71635019-C-G
• MyVariant Identifiers: chr5:g.70930846C>G (hg19) ; chr5:g.71635019C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635019C>G , CM000667.2:g.71635019C>G	GRCh38
NC_000005.9:g.70930846C>G , CM000667.1:g.70930846C>G	GRCh37
NC_000005.8:g.70966602C>G	NCBI36
NG_008882.1:g.52732C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.836C>G
ENST00000505787.8:n.2720C>G
ENST00000509358.7:c.880C>G	ENSP00000420994.3:p.Leu294Val
ENST00000509539.3:c.142C>G	ENSP00000425474.3:p.Leu48Val
ENST00000510895.7:n.1003C>G
ENST00000629193.3:c.766C>G	ENSP00000486535.2:p.Leu256Val
ENST00000681968.1:c.373C>G	ENSP00000508143.1:p.Leu125Val
ENST00000682045.1:c.736C>G	ENSP00000507329.1:p.Leu246Val
ENST00000682214.1:c.487C>G	ENSP00000507336.1:p.Leu163Val
ENST00000682499.1:n.1701C>G
ENST00000682541.1:c.880C>G	ENSP00000507673.1:p.Leu294Val
ENST00000682687.1:c.880C>G	ENSP00000507945.1:p.Leu294Val
ENST00000682727.1:c.880C>G	ENSP00000507393.1:p.Leu294Val
ENST00000682876.1:c.1009C>G	ENSP00000508389.1:p.Leu337Val
ENST00000683098.1:c.803+2834C>G	ENSP00000507670.1:n.803+2834C>G
ENST00000683258.1:c.*601C>G	ENSP00000507448.1:n.*601C>G
ENST00000683339.1:c.664C>G	ENSP00000507758.1:p.Leu222Val
ENST00000683403.1:c.813+67C>G	ENSP00000507896.1:n.813+67C>G
ENST00000683429.1:c.487C>G	ENSP00000507697.1:p.Leu163Val
ENST00000683665.1:c.880C>G	ENSP00000507068.1:p.Leu294Val
ENST00000683789.1:c.766C>G	ENSP00000507012.1:p.Leu256Val
ENST00000683847.1:n.724C>G
ENST00000683882.1:c.880C>G	ENSP00000506735.1:p.Leu294Val
ENST00000684024.1:c.*551C>G	ENSP00000507175.1:n.*551C>G
ENST00000684254.1:c.*606C>G	ENSP00000508001.1:n.*606C>G
ENST00000684310.1:c.142C>G	ENSP00000507550.1:p.Leu48Val
ENST00000684530.1:c.142C>G	ENSP00000507439.1:p.Leu48Val
ENST00000684652.1:n.1882C>G
ENST00000340941.11:c.880C>G MANE Select	ENSP00000343657.6:p.Leu294Val
ENST00000340941.10:c.880C>G	ENSP00000343657.6:p.Leu294Val
ENST00000505435.3:n.231C>G
ENST00000505787.7:n.694C>G
ENST00000509358.6:c.880C>G	ENSP00000420994.2:p.Leu294Val
ENST00000509539.2:c.205C>G	ENSP00000425474.2:p.Leu69Val
ENST00000510895.6:n.494C>G
ENST00000512218.6:c.766C>G	ENSP00000423202.2:p.Leu256Val
ENST00000629193.2:c.766C>G	ENSP00000486535.1:p.Leu256Val
NM_022132.4:c.880C>G	NP_071415.1:p.Leu294Val
XM_005248567.1:c.766C>G	XP_005248624.1:p.Leu256Val
XM_011543528.1:c.880C>G	XP_011541830.1:p.Leu294Val
XM_011543529.1:c.880C>G	XP_011541831.1:p.Leu294Val
NM_001363147.1:c.766C>G	NP_001350076.1:p.Leu256Val
XM_011543529.2:c.880C>G	XP_011541831.1:p.Leu294Val
XM_017009688.1:c.880C>G	XP_016865177.1:p.Leu294Val
XR_001742172.1:n.920C>G
NM_022132.5:c.880C>G MANE Select	NP_071415.1:p.Leu294Val