Canonical Allele Identifier: CA2674165287

Gene: MCCC2

Linked Data

• gnomAD v4: 5-71602499-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71602499C>T , CM000667.2:g.71602499C>T	GRCh38
NC_000005.9:g.70898326C>T , CM000667.1:g.70898326C>T	GRCh37
NC_000005.8:g.70934082C>T	NCBI36
NG_008882.1:g.20212C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000505435.4:n.454-7C>T
ENST00000505787.8:n.2224-7C>T
ENST00000509358.7:c.384-7C>T	ENSP00000420994.3:n.384-7C>T
ENST00000510895.7:n.507-7C>T
ENST00000629193.3:c.384-7C>T	ENSP00000486535.2:n.384-7C>T
ENST00000681968.1:c.-10-7C>T	ENSP00000508143.1:n.-10-7C>T
ENST00000682045.1:c.240-7C>T	ENSP00000507329.1:n.240-7C>T
ENST00000682214.1:c.-10-7C>T	ENSP00000507336.1:n.-10-7C>T
ENST00000682499.1:n.1205-7C>T
ENST00000682541.1:c.384-7C>T	ENSP00000507673.1:n.384-7C>T
ENST00000682687.1:c.384-7C>T	ENSP00000507945.1:n.384-7C>T
ENST00000682727.1:c.384-7C>T	ENSP00000507393.1:n.384-7C>T
ENST00000682876.1:c.384-7C>T	ENSP00000508389.1:n.384-7C>T
ENST00000683098.1:c.384-7C>T	ENSP00000507670.1:n.384-7C>T
ENST00000683258.1:c.*110-12C>T	ENSP00000507448.1:n.*110-12C>T
ENST00000683339.1:c.282-7C>T	ENSP00000507758.1:n.282-7C>T
ENST00000683403.1:c.384-7C>T	ENSP00000507896.1:n.384-7C>T
ENST00000683429.1:c.-10-7C>T	ENSP00000507697.1:n.-10-7C>T
ENST00000683665.1:c.384-7C>T	ENSP00000507068.1:n.384-7C>T
ENST00000683789.1:c.384-7C>T	ENSP00000507012.1:n.384-7C>T
ENST00000683882.1:c.384-7C>T	ENSP00000506735.1:n.384-7C>T
ENST00000684024.1:c.*55-7C>T	ENSP00000507175.1:n.*55-7C>T
ENST00000684254.1:c.*110-7C>T	ENSP00000508001.1:n.*110-7C>T
ENST00000340941.11:c.384-7C>T MANE Select	ENSP00000343657.6:n.384-7C>T
ENST00000340941.10:c.384-7C>T	ENSP00000343657.6:n.384-7C>T
ENST00000505787.7:n.198-7C>T
ENST00000507169.5:n.310-7C>T
ENST00000509358.6:c.384-7C>T	ENSP00000420994.2:n.384-7C>T
ENST00000512218.6:c.384-7C>T	ENSP00000423202.2:n.384-7C>T
ENST00000629193.2:c.384-7C>T	ENSP00000486535.1:n.384-7C>T
NM_022132.4:c.384-7C>T	NP_071415.1:n.384-7C>T
XM_005248567.1:c.384-7C>T	XP_005248624.1:n.384-7C>T
XM_011543528.1:c.384-7C>T	XP_011541830.1:n.384-7C>T
XM_011543529.1:c.384-7C>T	XP_011541831.1:n.384-7C>T
NM_001363147.1:c.384-7C>T	NP_001350076.1:n.384-7C>T
XM_011543529.2:c.384-7C>T	XP_011541831.1:n.384-7C>T
XM_017009688.1:c.384-7C>T	XP_016865177.1:n.384-7C>T
XR_001742172.1:n.424-7C>T
NM_022132.5:c.384-7C>T MANE Select	NP_071415.1:n.384-7C>T