Canonical Allele Identifier: CA356407252
Community Standard Title: NM_001378615.1(CC2D2A):c.123+2T>G
Gene: CC2D2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.15478808T>G , CM000666.2:g.15478808T>G GRCh38
NC_000004.11:g.15480432T>G , CM000666.1:g.15480432T>G GRCh37
NC_000004.10:g.15089530T>G NCBI36
NG_013035.1:g.13944T>G , LRG_697:g.13944T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001378615.1:c.123+2T>G MANE Select NP_001365544.1:n.123+2T>G
ENST00000424120.6:c.123+2T>G MANE Select ENSP00000403465.1:n.123+2T>G
NM_001080522.2:c.123+2T>G , LRG_697t1:c.123+2T>G NP_001073991.2:n.123+2T>G
NM_001164720.1:c.123+2T>G NP_001158192.1:n.123+2T>G
NM_001164720.2:c.123+2T>G NP_001158192.1:n.123+2T>G
NM_001164720.3:c.123+2T>G NP_001158192.1:n.123+2T>G
NM_020785.2:c.123+2T>G , LRG_697t2:c.123+2T>G NP_065836.2:n.123+2T>G
ENST00000389652.11:c.123+2T>G ENSP00000374303.8:n.123+2T>G
ENST00000424120.5:c.123+2T>G ENSP00000403465.1:n.123+2T>G
ENST00000438599.6:c.123+2T>G ENSP00000401154.2:n.123+2T>G
ENST00000503292.5:c.123+2T>G ENSP00000421809.1:n.123+2T>G
ENST00000503292.6:c.123+2T>G ENSP00000421809.1:n.123+2T>G
ENST00000503658.2:c.123+2T>G ENSP00000426846.1:n.123+2T>G
ENST00000507954.5:c.123+2T>G ENSP00000427221.1:n.123+2T>G
ENST00000511544.5:c.123+2T>G ENSP00000426109.2:n.123+2T>G
ENST00000511544.6:c.123+2T>G ENSP00000426109.2:n.123+2T>G
ENST00000512702.5:c.123+2T>G ENSP00000422875.1:n.123+2T>G
ENST00000512702.6:c.123+2T>G ENSP00000422875.2:n.123+2T>G
ENST00000513811.5:n.303+2T>G
ENST00000514450.2:n.278+2T>G
ENST00000514450.3:c.123+2T>G ENSP00000502062.1:n.123+2T>G
ENST00000515124.5:c.123+2T>G ENSP00000424368.1:n.123+2T>G
ENST00000515124.6:c.123+2T>G ENSP00000424368.1:n.123+2T>G
ENST00000676337.1:c.-25+2T>G ENSP00000501728.1:n.-25+2T>G
XM_005248177.1:c.123+2T>G XP_005248234.1:n.123+2T>G
XM_011513869.1:c.123+2T>G XP_011512171.1:n.123+2T>G
XM_011513870.1:c.123+2T>G XP_011512172.1:n.123+2T>G
XM_011513872.1:c.123+2T>G XP_011512174.1:n.123+2T>G
XM_011513872.3:c.123+2T>G XP_011512174.1:n.123+2T>G
XM_011513873.1:c.123+2T>G XP_011512175.1:n.123+2T>G
XM_011513874.1:c.123+2T>G XP_011512176.1:n.123+2T>G
XM_011513874.2:c.123+2T>G XP_011512176.1:n.123+2T>G
XR_001741296.1:n.323+2T>G