Canonical Allele Identifier: CA444800064

Gene: MCCC2

Linked Data

• MyVariant Identifiers: chr5:g.70898336A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71602509A>G , CM000667.2:g.71602509A>G	GRCh38
NC_000005.9:g.70898336A>G , CM000667.1:g.70898336A>G	GRCh37
NC_000005.8:g.70934092A>G	NCBI36
NG_008882.1:g.20222A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000505435.4:n.457A>G
ENST00000505787.8:n.2227A>G
ENST00000509358.7:c.387A>G	ENSP00000420994.3:p.Val129=
ENST00000510895.7:n.510A>G
ENST00000629193.3:c.387A>G	ENSP00000486535.2:p.Val129=
ENST00000681968.1:c.-7A>G	ENSP00000508143.1:n.-7A>G
ENST00000682045.1:c.243A>G	ENSP00000507329.1:p.Val81=
ENST00000682214.1:c.-7A>G	ENSP00000507336.1:n.-7A>G
ENST00000682499.1:n.1208A>G
ENST00000682541.1:c.387A>G	ENSP00000507673.1:p.Val129=
ENST00000682687.1:c.387A>G	ENSP00000507945.1:p.Val129=
ENST00000682727.1:c.387A>G	ENSP00000507393.1:p.Val129=
ENST00000682876.1:c.387A>G	ENSP00000508389.1:p.Val129=
ENST00000683098.1:c.387A>G	ENSP00000507670.1:p.Val129=
ENST00000683258.1:c.*110-2A>G	ENSP00000507448.1:n.*110-2A>G
ENST00000683339.1:c.285A>G	ENSP00000507758.1:p.Val95=
ENST00000683403.1:c.387A>G	ENSP00000507896.1:p.Val129=
ENST00000683429.1:c.-7A>G	ENSP00000507697.1:n.-7A>G
ENST00000683665.1:c.387A>G	ENSP00000507068.1:p.Val129=
ENST00000683789.1:c.387A>G	ENSP00000507012.1:p.Val129=
ENST00000683882.1:c.387A>G	ENSP00000506735.1:p.Val129=
ENST00000684024.1:c.*58A>G	ENSP00000507175.1:n.*58A>G
ENST00000684254.1:c.*113A>G	ENSP00000508001.1:n.*113A>G
ENST00000340941.11:c.387A>G MANE Select	ENSP00000343657.6:p.Val129=
ENST00000340941.10:c.387A>G	ENSP00000343657.6:p.Val129=
ENST00000505787.7:n.201A>G
ENST00000507169.5:n.313A>G
ENST00000509358.6:c.387A>G	ENSP00000420994.2:p.Val129=
ENST00000510895.6:n.1A>G
ENST00000512218.6:c.387A>G	ENSP00000423202.2:p.Val129=
ENST00000629193.2:c.387A>G	ENSP00000486535.1:p.Val129=
NM_022132.4:c.387A>G	NP_071415.1:p.Val129=
XM_005248567.1:c.387A>G	XP_005248624.1:p.Val129=
XM_011543528.1:c.387A>G	XP_011541830.1:p.Val129=
XM_011543529.1:c.387A>G	XP_011541831.1:p.Val129=
NM_001363147.1:c.387A>G	NP_001350076.1:p.Val129=
XM_011543529.2:c.387A>G	XP_011541831.1:p.Val129=
XM_017009688.1:c.387A>G	XP_016865177.1:p.Val129=
XR_001742172.1:n.427A>G
NM_022132.5:c.387A>G MANE Select	NP_071415.1:p.Val129=