Canonical Allele Identifier: CA359987552

Gene: MCCC2

Linked Data

• MyVariant Identifiers: chr5:g.70931005T>A (hg19) ; chr5:g.71635178T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71635178T>A , CM000667.2:g.71635178T>A	GRCh38
NC_000005.9:g.70931005T>A , CM000667.1:g.70931005T>A	GRCh37
NC_000005.8:g.70966761T>A	NCBI36
NG_008882.1:g.52891T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000505435.4:n.887T>A
ENST00000505787.8:n.2771T>A
ENST00000509358.7:c.931T>A	ENSP00000420994.3:p.Leu311Ile
ENST00000509539.3:c.193T>A	ENSP00000425474.3:p.Leu65Ile
ENST00000510895.7:n.1054T>A
ENST00000629193.3:c.817T>A	ENSP00000486535.2:p.Leu273Ile
ENST00000681968.1:c.424T>A	ENSP00000508143.1:p.Leu142Ile
ENST00000682045.1:c.787T>A	ENSP00000507329.1:p.Leu263Ile
ENST00000682214.1:c.538T>A	ENSP00000507336.1:p.Leu180Ile
ENST00000682499.1:n.1752T>A
ENST00000682541.1:c.931T>A	ENSP00000507673.1:p.Leu311Ile
ENST00000682687.1:c.931T>A	ENSP00000507945.1:p.Leu311Ile
ENST00000682727.1:c.931T>A	ENSP00000507393.1:p.Leu311Ile
ENST00000682876.1:c.1060T>A	ENSP00000508389.1:p.Leu354Ile
ENST00000683098.1:c.803+2993T>A	ENSP00000507670.1:n.803+2993T>A
ENST00000683258.1:c.*652T>A	ENSP00000507448.1:n.*652T>A
ENST00000683339.1:c.715T>A	ENSP00000507758.1:p.Leu239Ile
ENST00000683403.1:c.841T>A	ENSP00000507896.1:p.Leu281Ile
ENST00000683429.1:c.538T>A	ENSP00000507697.1:p.Leu180Ile
ENST00000683665.1:c.931T>A	ENSP00000507068.1:p.Leu311Ile
ENST00000683789.1:c.817T>A	ENSP00000507012.1:p.Leu273Ile
ENST00000683847.1:n.775T>A
ENST00000683882.1:c.931T>A	ENSP00000506735.1:p.Leu311Ile
ENST00000684024.1:c.*602T>A	ENSP00000507175.1:n.*602T>A
ENST00000684254.1:c.*657T>A	ENSP00000508001.1:n.*657T>A
ENST00000684310.1:c.165+136T>A	ENSP00000507550.1:n.165+136T>A
ENST00000684530.1:c.193T>A	ENSP00000507439.1:p.Leu65Ile
ENST00000684652.1:n.1933T>A
ENST00000340941.11:c.931T>A MANE Select	ENSP00000343657.6:p.Leu311Ile
ENST00000340941.10:c.931T>A	ENSP00000343657.6:p.Leu311Ile
ENST00000505435.3:n.282T>A
ENST00000509358.6:c.931T>A	ENSP00000420994.2:p.Leu311Ile
ENST00000509539.2:c.256T>A	ENSP00000425474.2:p.Leu86Ile
ENST00000510895.6:n.545T>A
ENST00000512218.6:c.817T>A	ENSP00000423202.2:p.Leu273Ile
ENST00000629193.2:c.817T>A	ENSP00000486535.1:p.Leu273Ile
NM_022132.4:c.931T>A	NP_071415.1:p.Leu311Ile
XM_005248567.1:c.817T>A	XP_005248624.1:p.Leu273Ile
XM_011543528.1:c.931T>A	XP_011541830.1:p.Leu311Ile
XM_011543529.1:c.931T>A	XP_011541831.1:p.Leu311Ile
NM_001363147.1:c.817T>A	NP_001350076.1:p.Leu273Ile
XM_011543529.2:c.931T>A	XP_011541831.1:p.Leu311Ile
XM_017009688.1:c.931T>A	XP_016865177.1:p.Leu311Ile
XR_001742172.1:n.971T>A
NM_022132.5:c.931T>A MANE Select	NP_071415.1:p.Leu311Ile