Canonical Allele Identifier: CA359987766

Gene: MCCC2

Linked Data

• gnomAD v4: 5-71635221-T-G
• MyVariant Identifiers: chr5:g.70931048T>G (hg19) ; chr5:g.71635221T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635221T>G , CM000667.2:g.71635221T>G	GRCh38
NC_000005.9:g.70931048T>G , CM000667.1:g.70931048T>G	GRCh37
NC_000005.8:g.70966804T>G	NCBI36
NG_008882.1:g.52934T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.930T>G
ENST00000505787.8:n.2814T>G
ENST00000509358.7:c.974T>G	ENSP00000420994.3:p.Leu325Arg
ENST00000509539.3:c.236T>G	ENSP00000425474.3:p.Leu79Arg
ENST00000510895.7:n.1097T>G
ENST00000629193.3:c.860T>G	ENSP00000486535.2:p.Leu287Arg
ENST00000681968.1:c.467T>G	ENSP00000508143.1:p.Leu156Arg
ENST00000682045.1:c.830T>G	ENSP00000507329.1:p.Leu277Arg
ENST00000682214.1:c.581T>G	ENSP00000507336.1:p.Leu194Arg
ENST00000682499.1:n.1795T>G
ENST00000682541.1:c.974T>G	ENSP00000507673.1:p.Leu325Arg
ENST00000682687.1:c.974T>G	ENSP00000507945.1:p.Leu325Arg
ENST00000682727.1:c.974T>G	ENSP00000507393.1:p.Leu325Arg
ENST00000682876.1:c.1103T>G	ENSP00000508389.1:p.Leu368Arg
ENST00000683098.1:c.803+3036T>G	ENSP00000507670.1:n.803+3036T>G
ENST00000683258.1:c.*695T>G	ENSP00000507448.1:n.*695T>G
ENST00000683339.1:c.758T>G	ENSP00000507758.1:p.Leu253Arg
ENST00000683403.1:c.884T>G	ENSP00000507896.1:p.Leu295Arg
ENST00000683429.1:c.581T>G	ENSP00000507697.1:p.Leu194Arg
ENST00000683665.1:c.974T>G	ENSP00000507068.1:p.Leu325Arg
ENST00000683789.1:c.860T>G	ENSP00000507012.1:p.Leu287Arg
ENST00000683847.1:n.818T>G
ENST00000683882.1:c.974T>G	ENSP00000506735.1:p.Leu325Arg
ENST00000684024.1:c.*645T>G	ENSP00000507175.1:n.*645T>G
ENST00000684254.1:c.*700T>G	ENSP00000508001.1:n.*700T>G
ENST00000684310.1:c.165+179T>G	ENSP00000507550.1:n.165+179T>G
ENST00000684530.1:c.236T>G	ENSP00000507439.1:p.Leu79Arg
ENST00000684652.1:n.1976T>G
ENST00000340941.11:c.974T>G MANE Select	ENSP00000343657.6:p.Leu325Arg
ENST00000340941.10:c.974T>G	ENSP00000343657.6:p.Leu325Arg
ENST00000505435.3:n.325T>G
ENST00000509358.6:c.974T>G	ENSP00000420994.2:p.Leu325Arg
ENST00000509539.2:c.299T>G	ENSP00000425474.2:p.Leu100Arg
ENST00000510895.6:n.588T>G
ENST00000512218.6:c.860T>G	ENSP00000423202.2:p.Leu287Arg
ENST00000629193.2:c.860T>G	ENSP00000486535.1:p.Leu287Arg
NM_022132.4:c.974T>G	NP_071415.1:p.Leu325Arg
XM_005248567.1:c.860T>G	XP_005248624.1:p.Leu287Arg
XM_011543528.1:c.974T>G	XP_011541830.1:p.Leu325Arg
XM_011543529.1:c.974T>G	XP_011541831.1:p.Leu325Arg
NM_001363147.1:c.860T>G	NP_001350076.1:p.Leu287Arg
XM_011543529.2:c.974T>G	XP_011541831.1:p.Leu325Arg
XM_017009688.1:c.974T>G	XP_016865177.1:p.Leu325Arg
XR_001742172.1:n.1014T>G
NM_022132.5:c.974T>G MANE Select	NP_071415.1:p.Leu325Arg