Canonical Allele Identifier: CA359986387

Gene: MCCC2

Linked Data

• MyVariant Identifiers: chr5:g.70930799T>A (hg19) ; chr5:g.71634972T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71634972T>A , CM000667.2:g.71634972T>A	GRCh38
NC_000005.9:g.70930799T>A , CM000667.1:g.70930799T>A	GRCh37
NC_000005.8:g.70966555T>A	NCBI36
NG_008882.1:g.52685T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.789T>A
ENST00000505787.8:n.2673T>A
ENST00000509358.7:c.833T>A	ENSP00000420994.3:p.Leu278Ter
ENST00000509539.3:c.95T>A	ENSP00000425474.3:p.Leu32Ter
ENST00000510895.7:n.956T>A
ENST00000629193.3:c.719T>A	ENSP00000486535.2:p.Leu240Ter
ENST00000681968.1:c.326T>A	ENSP00000508143.1:p.Leu109Ter
ENST00000682045.1:c.689T>A	ENSP00000507329.1:p.Leu230Ter
ENST00000682214.1:c.440T>A	ENSP00000507336.1:p.Leu147Ter
ENST00000682499.1:n.1654T>A
ENST00000682541.1:c.833T>A	ENSP00000507673.1:p.Leu278Ter
ENST00000682687.1:c.833T>A	ENSP00000507945.1:p.Leu278Ter
ENST00000682727.1:c.833T>A	ENSP00000507393.1:p.Leu278Ter
ENST00000682876.1:c.962T>A	ENSP00000508389.1:p.Leu321Ter
ENST00000683098.1:c.803+2787T>A	ENSP00000507670.1:n.803+2787T>A
ENST00000683258.1:c.*554T>A	ENSP00000507448.1:n.*554T>A
ENST00000683339.1:c.617T>A	ENSP00000507758.1:p.Leu206Ter
ENST00000683403.1:c.813+20T>A	ENSP00000507896.1:n.813+20T>A
ENST00000683429.1:c.440T>A	ENSP00000507697.1:p.Leu147Ter
ENST00000683665.1:c.833T>A	ENSP00000507068.1:p.Leu278Ter
ENST00000683789.1:c.719T>A	ENSP00000507012.1:p.Leu240Ter
ENST00000683847.1:n.677T>A
ENST00000683882.1:c.833T>A	ENSP00000506735.1:p.Leu278Ter
ENST00000684024.1:c.*504T>A	ENSP00000507175.1:n.*504T>A
ENST00000684254.1:c.*559T>A	ENSP00000508001.1:n.*559T>A
ENST00000684310.1:c.95T>A	ENSP00000507550.1:p.Leu32Ter
ENST00000684530.1:c.95T>A	ENSP00000507439.1:p.Leu32Ter
ENST00000684652.1:n.1835T>A
ENST00000340941.11:c.833T>A MANE Select	ENSP00000343657.6:p.Leu278Ter
ENST00000340941.10:c.833T>A	ENSP00000343657.6:p.Leu278Ter
ENST00000505435.3:n.184T>A
ENST00000505787.7:n.647T>A
ENST00000509358.6:c.833T>A	ENSP00000420994.2:p.Leu278Ter
ENST00000509539.2:c.158T>A	ENSP00000425474.2:p.Leu53Ter
ENST00000510895.6:n.447T>A
ENST00000512218.6:c.719T>A	ENSP00000423202.2:p.Leu240Ter
ENST00000629193.2:c.719T>A	ENSP00000486535.1:p.Leu240Ter
NM_022132.4:c.833T>A	NP_071415.1:p.Leu278Ter
XM_005248567.1:c.719T>A	XP_005248624.1:p.Leu240Ter
XM_011543528.1:c.833T>A	XP_011541830.1:p.Leu278Ter
XM_011543529.1:c.833T>A	XP_011541831.1:p.Leu278Ter
NM_001363147.1:c.719T>A	NP_001350076.1:p.Leu240Ter
XM_011543529.2:c.833T>A	XP_011541831.1:p.Leu278Ter
XM_017009688.1:c.833T>A	XP_016865177.1:p.Leu278Ter
XR_001742172.1:n.873T>A
NM_022132.5:c.833T>A MANE Select	NP_071415.1:p.Leu278Ter