Canonical Allele Identifier: CA2670076820
Gene: CC2D2A HGNC NCBI

Linked Data

gnomAD v4: 4-15567668-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.15567668G>T , CM000666.2:g.15567668G>T GRCh38
NC_000004.11:g.15569291G>T , CM000666.1:g.15569291G>T GRCh37
NC_000004.10:g.15178389G>T NCBI36
NG_013035.1:g.102803G>T , LRG_697:g.102803G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000389652.11:c.3304-9G>T ENSP00000374303.8:n.3304-9G>T
ENST00000424120.6:c.3289-9G>T MANE Select ENSP00000403465.1:n.3289-9G>T
ENST00000503292.6:c.3289-9G>T ENSP00000421809.1:n.3289-9G>T
ENST00000506643.5:c.3142-9G>T ENSP00000422931.2:n.3142-9G>T
ENST00000634028.2:c.3142-9G>T ENSP00000488669.2:n.3142-9G>T
ENST00000650860.2:c.*295-9G>T ENSP00000498775.1:n.*295-9G>T
ENST00000674945.1:c.3142-9G>T ENSP00000502333.1:n.3142-9G>T
ENST00000675619.1:n.4100-9G>T
ENST00000675768.1:n.509-9G>T
ENST00000676337.1:c.*295-9G>T ENSP00000501728.1:n.*295-9G>T
ENST00000680586.1:n.3948-9G>T
ENST00000389652.9:c.2766-9G>T
ENST00000424120.5:c.3289-9G>T ENSP00000403465.1:n.3289-9G>T
ENST00000503292.5:c.3289-9G>T ENSP00000421809.1:n.3289-9G>T
ENST00000506643.4:c.1617-9G>T
ENST00000634028.1:c.3272-9G>T ENSP00000488669.1:n.3272-9G>T
NM_001080522.2:c.3289-9G>T , LRG_697t1:c.3289-9G>T NP_001073991.2:n.3289-9G>T
XM_005248177.1:c.3289-9G>T XP_005248234.1:n.3289-9G>T
XM_011513869.1:c.3289-9G>T XP_011512171.1:n.3289-9G>T
XM_011513870.1:c.3289-9G>T XP_011512172.1:n.3289-9G>T
XM_011513871.1:c.3142-9G>T XP_011512173.1:n.3142-9G>T
XM_017008482.1:c.3142-9G>T XP_016863971.1:n.3142-9G>T
XR_001741296.1:n.3534-9G>T
NM_001378615.1:c.3289-9G>T MANE Select NP_001365544.1:n.3289-9G>T
NM_001378617.1:c.3142-9G>T NP_001365546.1:n.3142-9G>T