Canonical Allele Identifier: CA359987407

Gene: MCCC2

Linked Data

• ClinVar Variation Id: 3124204
• ClinVar RCV Id: RCV004419080
• dbSNP Id: rs1445349166
• gnomAD v3: 5-71635158-T-C
• gnomAD v4: 5-71635158-T-C
• MyVariant Identifiers: chr5:g.70930985T>C (hg19) ; chr5:g.71635158T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635158T>C , CM000667.2:g.71635158T>C	GRCh38
NC_000005.9:g.70930985T>C , CM000667.1:g.70930985T>C	GRCh37
NC_000005.8:g.70966741T>C	NCBI36
NG_008882.1:g.52871T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.867T>C
ENST00000505787.8:n.2751T>C
ENST00000509358.7:c.911T>C	ENSP00000420994.3:p.Ile304Thr
ENST00000509539.3:c.173T>C	ENSP00000425474.3:p.Ile58Thr
ENST00000510895.7:n.1034T>C
ENST00000629193.3:c.797T>C	ENSP00000486535.2:p.Ile266Thr
ENST00000681968.1:c.404T>C	ENSP00000508143.1:p.Ile135Thr
ENST00000682045.1:c.767T>C	ENSP00000507329.1:p.Ile256Thr
ENST00000682214.1:c.518T>C	ENSP00000507336.1:p.Ile173Thr
ENST00000682499.1:n.1732T>C
ENST00000682541.1:c.911T>C	ENSP00000507673.1:p.Ile304Thr
ENST00000682687.1:c.911T>C	ENSP00000507945.1:p.Ile304Thr
ENST00000682727.1:c.911T>C	ENSP00000507393.1:p.Ile304Thr
ENST00000682876.1:c.1040T>C	ENSP00000508389.1:p.Ile347Thr
ENST00000683098.1:c.803+2973T>C	ENSP00000507670.1:n.803+2973T>C
ENST00000683258.1:c.*632T>C	ENSP00000507448.1:n.*632T>C
ENST00000683339.1:c.695T>C	ENSP00000507758.1:p.Ile232Thr
ENST00000683403.1:c.821T>C	ENSP00000507896.1:p.Ile274Thr
ENST00000683429.1:c.518T>C	ENSP00000507697.1:p.Ile173Thr
ENST00000683665.1:c.911T>C	ENSP00000507068.1:p.Ile304Thr
ENST00000683789.1:c.797T>C	ENSP00000507012.1:p.Ile266Thr
ENST00000683847.1:n.755T>C
ENST00000683882.1:c.911T>C	ENSP00000506735.1:p.Ile304Thr
ENST00000684024.1:c.*582T>C	ENSP00000507175.1:n.*582T>C
ENST00000684254.1:c.*637T>C	ENSP00000508001.1:n.*637T>C
ENST00000684310.1:c.165+116T>C	ENSP00000507550.1:n.165+116T>C
ENST00000684530.1:c.173T>C	ENSP00000507439.1:p.Ile58Thr
ENST00000684652.1:n.1913T>C
ENST00000340941.11:c.911T>C MANE Select	ENSP00000343657.6:p.Ile304Thr
ENST00000340941.10:c.911T>C	ENSP00000343657.6:p.Ile304Thr
ENST00000505435.3:n.262T>C
ENST00000509358.6:c.911T>C	ENSP00000420994.2:p.Ile304Thr
ENST00000509539.2:c.236T>C	ENSP00000425474.2:p.Ile79Thr
ENST00000510895.6:n.525T>C
ENST00000512218.6:c.797T>C	ENSP00000423202.2:p.Ile266Thr
ENST00000629193.2:c.797T>C	ENSP00000486535.1:p.Ile266Thr
NM_022132.4:c.911T>C	NP_071415.1:p.Ile304Thr
XM_005248567.1:c.797T>C	XP_005248624.1:p.Ile266Thr
XM_011543528.1:c.911T>C	XP_011541830.1:p.Ile304Thr
XM_011543529.1:c.911T>C	XP_011541831.1:p.Ile304Thr
NM_001363147.1:c.797T>C	NP_001350076.1:p.Ile266Thr
XM_011543529.2:c.911T>C	XP_011541831.1:p.Ile304Thr
XM_017009688.1:c.911T>C	XP_016865177.1:p.Ile304Thr
XR_001742172.1:n.951T>C
NM_022132.5:c.911T>C MANE Select	NP_071415.1:p.Ile304Thr