Canonical Allele Identifier: CA359987467

Gene: MCCC2

Linked Data

• gnomAD v4: 5-71635167-C-G
• MyVariant Identifiers: chr5:g.70930994C>G (hg19) ; chr5:g.71635167C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635167C>G , CM000667.2:g.71635167C>G	GRCh38
NC_000005.9:g.70930994C>G , CM000667.1:g.70930994C>G	GRCh37
NC_000005.8:g.70966750C>G	NCBI36
NG_008882.1:g.52880C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.876C>G
ENST00000505787.8:n.2760C>G
ENST00000509358.7:c.920C>G	ENSP00000420994.3:p.Ser307Cys
ENST00000509539.3:c.182C>G	ENSP00000425474.3:p.Ser61Cys
ENST00000510895.7:n.1043C>G
ENST00000629193.3:c.806C>G	ENSP00000486535.2:p.Ser269Cys
ENST00000681968.1:c.413C>G	ENSP00000508143.1:p.Ser138Cys
ENST00000682045.1:c.776C>G	ENSP00000507329.1:p.Ser259Cys
ENST00000682214.1:c.527C>G	ENSP00000507336.1:p.Ser176Cys
ENST00000682499.1:n.1741C>G
ENST00000682541.1:c.920C>G	ENSP00000507673.1:p.Ser307Cys
ENST00000682687.1:c.920C>G	ENSP00000507945.1:p.Ser307Cys
ENST00000682727.1:c.920C>G	ENSP00000507393.1:p.Ser307Cys
ENST00000682876.1:c.1049C>G	ENSP00000508389.1:p.Ser350Cys
ENST00000683098.1:c.803+2982C>G	ENSP00000507670.1:n.803+2982C>G
ENST00000683258.1:c.*641C>G	ENSP00000507448.1:n.*641C>G
ENST00000683339.1:c.704C>G	ENSP00000507758.1:p.Ser235Cys
ENST00000683403.1:c.830C>G	ENSP00000507896.1:p.Ser277Cys
ENST00000683429.1:c.527C>G	ENSP00000507697.1:p.Ser176Cys
ENST00000683665.1:c.920C>G	ENSP00000507068.1:p.Ser307Cys
ENST00000683789.1:c.806C>G	ENSP00000507012.1:p.Ser269Cys
ENST00000683847.1:n.764C>G
ENST00000683882.1:c.920C>G	ENSP00000506735.1:p.Ser307Cys
ENST00000684024.1:c.*591C>G	ENSP00000507175.1:n.*591C>G
ENST00000684254.1:c.*646C>G	ENSP00000508001.1:n.*646C>G
ENST00000684310.1:c.165+125C>G	ENSP00000507550.1:n.165+125C>G
ENST00000684530.1:c.182C>G	ENSP00000507439.1:p.Ser61Cys
ENST00000684652.1:n.1922C>G
ENST00000340941.11:c.920C>G MANE Select	ENSP00000343657.6:p.Ser307Cys
ENST00000340941.10:c.920C>G	ENSP00000343657.6:p.Ser307Cys
ENST00000505435.3:n.271C>G
ENST00000509358.6:c.920C>G	ENSP00000420994.2:p.Ser307Cys
ENST00000509539.2:c.245C>G	ENSP00000425474.2:p.Ser82Cys
ENST00000510895.6:n.534C>G
ENST00000512218.6:c.806C>G	ENSP00000423202.2:p.Ser269Cys
ENST00000629193.2:c.806C>G	ENSP00000486535.1:p.Ser269Cys
NM_022132.4:c.920C>G	NP_071415.1:p.Ser307Cys
XM_005248567.1:c.806C>G	XP_005248624.1:p.Ser269Cys
XM_011543528.1:c.920C>G	XP_011541830.1:p.Ser307Cys
XM_011543529.1:c.920C>G	XP_011541831.1:p.Ser307Cys
NM_001363147.1:c.806C>G	NP_001350076.1:p.Ser269Cys
XM_011543529.2:c.920C>G	XP_011541831.1:p.Ser307Cys
XM_017009688.1:c.920C>G	XP_016865177.1:p.Ser307Cys
XR_001742172.1:n.960C>G
NM_022132.5:c.920C>G MANE Select	NP_071415.1:p.Ser307Cys