Canonical Allele Identifier: CA444801057

Gene: MCCC2

Linked Data

• MyVariant Identifiers: chr5:g.70930824A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71634997A>G , CM000667.2:g.71634997A>G	GRCh38
NC_000005.9:g.70930824A>G , CM000667.1:g.70930824A>G	GRCh37
NC_000005.8:g.70966580A>G	NCBI36
NG_008882.1:g.52710A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505435.4:n.814A>G
ENST00000505787.8:n.2698A>G
ENST00000509358.7:c.858A>G	ENSP00000420994.3:p.Leu286=
ENST00000509539.3:c.120A>G	ENSP00000425474.3:p.Leu40=
ENST00000510895.7:n.981A>G
ENST00000629193.3:c.744A>G	ENSP00000486535.2:p.Leu248=
ENST00000681968.1:c.351A>G	ENSP00000508143.1:p.Leu117=
ENST00000682045.1:c.714A>G	ENSP00000507329.1:p.Leu238=
ENST00000682214.1:c.465A>G	ENSP00000507336.1:p.Leu155=
ENST00000682499.1:n.1679A>G
ENST00000682541.1:c.858A>G	ENSP00000507673.1:p.Leu286=
ENST00000682687.1:c.858A>G	ENSP00000507945.1:p.Leu286=
ENST00000682727.1:c.858A>G	ENSP00000507393.1:p.Leu286=
ENST00000682876.1:c.987A>G	ENSP00000508389.1:p.Leu329=
ENST00000683098.1:c.803+2812A>G	ENSP00000507670.1:n.803+2812A>G
ENST00000683258.1:c.*579A>G	ENSP00000507448.1:n.*579A>G
ENST00000683339.1:c.642A>G	ENSP00000507758.1:p.Leu214=
ENST00000683403.1:c.813+45A>G	ENSP00000507896.1:n.813+45A>G
ENST00000683429.1:c.465A>G	ENSP00000507697.1:p.Leu155=
ENST00000683665.1:c.858A>G	ENSP00000507068.1:p.Leu286=
ENST00000683789.1:c.744A>G	ENSP00000507012.1:p.Leu248=
ENST00000683847.1:n.702A>G
ENST00000683882.1:c.858A>G	ENSP00000506735.1:p.Leu286=
ENST00000684024.1:c.*529A>G	ENSP00000507175.1:n.*529A>G
ENST00000684254.1:c.*584A>G	ENSP00000508001.1:n.*584A>G
ENST00000684310.1:c.120A>G	ENSP00000507550.1:p.Leu40=
ENST00000684530.1:c.120A>G	ENSP00000507439.1:p.Leu40=
ENST00000684652.1:n.1860A>G
ENST00000340941.11:c.858A>G MANE Select	ENSP00000343657.6:p.Leu286=
ENST00000340941.10:c.858A>G	ENSP00000343657.6:p.Leu286=
ENST00000505435.3:n.209A>G
ENST00000505787.7:n.672A>G
ENST00000509358.6:c.858A>G	ENSP00000420994.2:p.Leu286=
ENST00000509539.2:c.183A>G	ENSP00000425474.2:p.Leu61=
ENST00000510895.6:n.472A>G
ENST00000512218.6:c.744A>G	ENSP00000423202.2:p.Leu248=
ENST00000629193.2:c.744A>G	ENSP00000486535.1:p.Leu248=
NM_022132.4:c.858A>G	NP_071415.1:p.Leu286=
XM_005248567.1:c.744A>G	XP_005248624.1:p.Leu248=
XM_011543528.1:c.858A>G	XP_011541830.1:p.Leu286=
XM_011543529.1:c.858A>G	XP_011541831.1:p.Leu286=
NM_001363147.1:c.744A>G	NP_001350076.1:p.Leu248=
XM_011543529.2:c.858A>G	XP_011541831.1:p.Leu286=
XM_017009688.1:c.858A>G	XP_016865177.1:p.Leu286=
XR_001742172.1:n.898A>G
NM_022132.5:c.858A>G MANE Select	NP_071415.1:p.Leu286=