Canonical Allele Identifier: CA6680459
Community Standard Title: NM_006431.3(CCT2):c.100G>A (p.Ala34Thr)
Gene: CCT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.69586774G>A , CM000674.2:g.69586774G>A GRCh38
NC_000012.11:g.69980554G>A , CM000674.1:g.69980554G>A GRCh37
NC_000012.10:g.68266821G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006431.3:c.100G>A MANE Select NP_006422.1:p.Ala34Thr
ENST00000299300.11:c.100G>A MANE Select ENSP00000299300.6:p.Ala34Thr
NM_001198842.1:c.-42G>A NP_001185771.1:n.-42G>A
NM_001198842.2:c.-42G>A NP_001185771.1:n.-42G>A
NM_006431.2:c.100G>A NP_006422.1:p.Ala34Thr
ENST00000299300.10:c.100G>A ENSP00000299300.6:p.Ala34Thr
ENST00000543146.2:c.-42G>A ENSP00000445471.2:n.-42G>A
ENST00000544368.6:c.100G>A ENSP00000441847.2:p.Ala34Thr
ENST00000546859.5:n.196G>A
ENST00000549933.5:n.163G>A
ENST00000550010.5:c.100G>A ENSP00000450153.1:p.Ala34Thr
ENST00000550455.5:n.163G>A
ENST00000550638.5:n.163G>A
ENST00000551620.5:n.163G>A
ENST00000551899.5:n.421G>A