Canonical Allele Identifier: CA359987440

Gene: MCCC2

Linked Data

• gnomAD v4: 5-71635163-C-G
• MyVariant Identifiers: chr5:g.70930990C>G (hg19) ; chr5:g.71635163C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635163C>G , CM000667.2:g.71635163C>G	GRCh38
NC_000005.9:g.70930990C>G , CM000667.1:g.70930990C>G	GRCh37
NC_000005.8:g.70966746C>G	NCBI36
NG_008882.1:g.52876C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.872C>G
ENST00000505787.8:n.2756C>G
ENST00000509358.7:c.916C>G	ENSP00000420994.3:p.Pro306Ala
ENST00000509539.3:c.178C>G	ENSP00000425474.3:p.Pro60Ala
ENST00000510895.7:n.1039C>G
ENST00000629193.3:c.802C>G	ENSP00000486535.2:p.Pro268Ala
ENST00000681968.1:c.409C>G	ENSP00000508143.1:p.Pro137Ala
ENST00000682045.1:c.772C>G	ENSP00000507329.1:p.Pro258Ala
ENST00000682214.1:c.523C>G	ENSP00000507336.1:p.Pro175Ala
ENST00000682499.1:n.1737C>G
ENST00000682541.1:c.916C>G	ENSP00000507673.1:p.Pro306Ala
ENST00000682687.1:c.916C>G	ENSP00000507945.1:p.Pro306Ala
ENST00000682727.1:c.916C>G	ENSP00000507393.1:p.Pro306Ala
ENST00000682876.1:c.1045C>G	ENSP00000508389.1:p.Pro349Ala
ENST00000683098.1:c.803+2978C>G	ENSP00000507670.1:n.803+2978C>G
ENST00000683258.1:c.*637C>G	ENSP00000507448.1:n.*637C>G
ENST00000683339.1:c.700C>G	ENSP00000507758.1:p.Pro234Ala
ENST00000683403.1:c.826C>G	ENSP00000507896.1:p.Pro276Ala
ENST00000683429.1:c.523C>G	ENSP00000507697.1:p.Pro175Ala
ENST00000683665.1:c.916C>G	ENSP00000507068.1:p.Pro306Ala
ENST00000683789.1:c.802C>G	ENSP00000507012.1:p.Pro268Ala
ENST00000683847.1:n.760C>G
ENST00000683882.1:c.916C>G	ENSP00000506735.1:p.Pro306Ala
ENST00000684024.1:c.*587C>G	ENSP00000507175.1:n.*587C>G
ENST00000684254.1:c.*642C>G	ENSP00000508001.1:n.*642C>G
ENST00000684310.1:c.165+121C>G	ENSP00000507550.1:n.165+121C>G
ENST00000684530.1:c.178C>G	ENSP00000507439.1:p.Pro60Ala
ENST00000684652.1:n.1918C>G
ENST00000340941.11:c.916C>G MANE Select	ENSP00000343657.6:p.Pro306Ala
ENST00000340941.10:c.916C>G	ENSP00000343657.6:p.Pro306Ala
ENST00000505435.3:n.267C>G
ENST00000509358.6:c.916C>G	ENSP00000420994.2:p.Pro306Ala
ENST00000509539.2:c.241C>G	ENSP00000425474.2:p.Pro81Ala
ENST00000510895.6:n.530C>G
ENST00000512218.6:c.802C>G	ENSP00000423202.2:p.Pro268Ala
ENST00000629193.2:c.802C>G	ENSP00000486535.1:p.Pro268Ala
NM_022132.4:c.916C>G	NP_071415.1:p.Pro306Ala
XM_005248567.1:c.802C>G	XP_005248624.1:p.Pro268Ala
XM_011543528.1:c.916C>G	XP_011541830.1:p.Pro306Ala
XM_011543529.1:c.916C>G	XP_011541831.1:p.Pro306Ala
NM_001363147.1:c.802C>G	NP_001350076.1:p.Pro268Ala
XM_011543529.2:c.916C>G	XP_011541831.1:p.Pro306Ala
XM_017009688.1:c.916C>G	XP_016865177.1:p.Pro306Ala
XR_001742172.1:n.956C>G
NM_022132.5:c.916C>G MANE Select	NP_071415.1:p.Pro306Ala