Canonical Allele Identifier: CA356418549

Gene: CC2D2A

Linked Data

• MyVariant Identifiers: chr4:g.15569305A>T (hg19) ; chr4:g.15567682A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15567682A>T , CM000666.2:g.15567682A>T	GRCh38
NC_000004.11:g.15569305A>T , CM000666.1:g.15569305A>T	GRCh37
NC_000004.10:g.15178403A>T	NCBI36
NG_013035.1:g.102817A>T , LRG_697:g.102817A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.3309A>T	ENSP00000374303.8:p.Leu1103Phe
ENST00000424120.6:c.3294A>T MANE Select	ENSP00000403465.1:p.Leu1098Phe
ENST00000503292.6:c.3294A>T	ENSP00000421809.1:p.Leu1098Phe
ENST00000506643.5:c.3147A>T	ENSP00000422931.2:p.Leu1049Phe
ENST00000634028.2:c.3147A>T	ENSP00000488669.2:p.Leu1049Phe
ENST00000650860.2:c.*300A>T	ENSP00000498775.1:n.*300A>T
ENST00000674945.1:c.3147A>T	ENSP00000502333.1:p.Leu1049Phe
ENST00000675619.1:n.4105A>T
ENST00000675768.1:n.514A>T
ENST00000676337.1:c.*300A>T	ENSP00000501728.1:n.*300A>T
ENST00000680586.1:n.3953A>T
ENST00000389652.9:c.2771A>T
ENST00000424120.5:c.3294A>T	ENSP00000403465.1:p.Leu1098Phe
ENST00000503292.5:c.3294A>T	ENSP00000421809.1:p.Leu1098Phe
ENST00000506643.4:c.1622A>T
ENST00000634028.1:c.3277A>T	ENSP00000488669.1:n.3277A>T
NM_001080522.2:c.3294A>T , LRG_697t1:c.3294A>T	NP_001073991.2:p.Leu1098Phe
XM_005248177.1:c.3294A>T	XP_005248234.1:p.Leu1098Phe
XM_011513869.1:c.3294A>T	XP_011512171.1:p.Leu1098Phe
XM_011513870.1:c.3294A>T	XP_011512172.1:p.Leu1098Phe
XM_011513871.1:c.3147A>T	XP_011512173.1:p.Leu1049Phe
XM_017008482.1:c.3147A>T	XP_016863971.1:p.Leu1049Phe
XR_001741296.1:n.3539A>T
NM_001378615.1:c.3294A>T MANE Select	NP_001365544.1:p.Leu1098Phe
NM_001378617.1:c.3147A>T	NP_001365546.1:p.Leu1049Phe