Canonical Allele Identifier: CA359987462

Gene: MCCC2

Linked Data

• dbSNP Id: rs1433846335
• gnomAD v3: 5-71635166-T-C
• gnomAD v4: 5-71635166-T-C
• MyVariant Identifiers: chr5:g.70930993T>C (hg19) ; chr5:g.71635166T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635166T>C , CM000667.2:g.71635166T>C	GRCh38
NC_000005.9:g.70930993T>C , CM000667.1:g.70930993T>C	GRCh37
NC_000005.8:g.70966749T>C	NCBI36
NG_008882.1:g.52879T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.875T>C
ENST00000505787.8:n.2759T>C
ENST00000509358.7:c.919T>C	ENSP00000420994.3:p.Ser307Pro
ENST00000509539.3:c.181T>C	ENSP00000425474.3:p.Ser61Pro
ENST00000510895.7:n.1042T>C
ENST00000629193.3:c.805T>C	ENSP00000486535.2:p.Ser269Pro
ENST00000681968.1:c.412T>C	ENSP00000508143.1:p.Ser138Pro
ENST00000682045.1:c.775T>C	ENSP00000507329.1:p.Ser259Pro
ENST00000682214.1:c.526T>C	ENSP00000507336.1:p.Ser176Pro
ENST00000682499.1:n.1740T>C
ENST00000682541.1:c.919T>C	ENSP00000507673.1:p.Ser307Pro
ENST00000682687.1:c.919T>C	ENSP00000507945.1:p.Ser307Pro
ENST00000682727.1:c.919T>C	ENSP00000507393.1:p.Ser307Pro
ENST00000682876.1:c.1048T>C	ENSP00000508389.1:p.Ser350Pro
ENST00000683098.1:c.803+2981T>C	ENSP00000507670.1:n.803+2981T>C
ENST00000683258.1:c.*640T>C	ENSP00000507448.1:n.*640T>C
ENST00000683339.1:c.703T>C	ENSP00000507758.1:p.Ser235Pro
ENST00000683403.1:c.829T>C	ENSP00000507896.1:p.Ser277Pro
ENST00000683429.1:c.526T>C	ENSP00000507697.1:p.Ser176Pro
ENST00000683665.1:c.919T>C	ENSP00000507068.1:p.Ser307Pro
ENST00000683789.1:c.805T>C	ENSP00000507012.1:p.Ser269Pro
ENST00000683847.1:n.763T>C
ENST00000683882.1:c.919T>C	ENSP00000506735.1:p.Ser307Pro
ENST00000684024.1:c.*590T>C	ENSP00000507175.1:n.*590T>C
ENST00000684254.1:c.*645T>C	ENSP00000508001.1:n.*645T>C
ENST00000684310.1:c.165+124T>C	ENSP00000507550.1:n.165+124T>C
ENST00000684530.1:c.181T>C	ENSP00000507439.1:p.Ser61Pro
ENST00000684652.1:n.1921T>C
ENST00000340941.11:c.919T>C MANE Select	ENSP00000343657.6:p.Ser307Pro
ENST00000340941.10:c.919T>C	ENSP00000343657.6:p.Ser307Pro
ENST00000505435.3:n.270T>C
ENST00000509358.6:c.919T>C	ENSP00000420994.2:p.Ser307Pro
ENST00000509539.2:c.244T>C	ENSP00000425474.2:p.Ser82Pro
ENST00000510895.6:n.533T>C
ENST00000512218.6:c.805T>C	ENSP00000423202.2:p.Ser269Pro
ENST00000629193.2:c.805T>C	ENSP00000486535.1:p.Ser269Pro
NM_022132.4:c.919T>C	NP_071415.1:p.Ser307Pro
XM_005248567.1:c.805T>C	XP_005248624.1:p.Ser269Pro
XM_011543528.1:c.919T>C	XP_011541830.1:p.Ser307Pro
XM_011543529.1:c.919T>C	XP_011541831.1:p.Ser307Pro
NM_001363147.1:c.805T>C	NP_001350076.1:p.Ser269Pro
XM_011543529.2:c.919T>C	XP_011541831.1:p.Ser307Pro
XM_017009688.1:c.919T>C	XP_016865177.1:p.Ser307Pro
XR_001742172.1:n.959T>C
NM_022132.5:c.919T>C MANE Select	NP_071415.1:p.Ser307Pro