Canonical Allele Identifier: CA356431498

Gene: CC2D2A

Linked Data

• MyVariant Identifiers: chr4:g.15597739C>T (hg19) ; chr4:g.15596116C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15596116C>T , CM000666.2:g.15596116C>T	GRCh38
NC_000004.11:g.15597739C>T , CM000666.1:g.15597739C>T	GRCh37
NC_000004.10:g.15206837C>T	NCBI36
NG_013035.1:g.131251C>T , LRG_697:g.131251C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.4382C>T	ENSP00000374303.8:p.Pro1461Leu
ENST00000424120.6:c.4346C>T MANE Select	ENSP00000403465.1:p.Pro1449Leu
ENST00000503292.6:c.4346C>T	ENSP00000421809.1:p.Pro1449Leu
ENST00000506643.5:c.4199C>T	ENSP00000422931.2:p.Pro1400Leu
ENST00000513035.2:n.245C>T
ENST00000514039.6:c.544-1291C>T	ENSP00000488534.2:n.544-1291C>T
ENST00000634028.2:c.4168-28C>T	ENSP00000488669.2:n.4168-28C>T
ENST00000650860.2:c.*1843C>T	ENSP00000498775.1:n.*1843C>T
ENST00000674945.1:c.4022C>T	ENSP00000502333.1:p.Pro1341Leu
ENST00000680586.1:n.5005C>T
ENST00000389652.9:c.3844C>T
ENST00000424120.5:c.4346C>T	ENSP00000403465.1:p.Pro1449Leu
ENST00000503292.5:c.4346C>T	ENSP00000421809.1:p.Pro1449Leu
ENST00000506643.4:c.2643-28C>T
ENST00000513035.1:n.245C>T
ENST00000514039.5:c.54-1291C>T
ENST00000634028.1:c.4152C>T	ENSP00000488669.1:n.4152C>T
NM_001080522.2:c.4346C>T , LRG_697t1:c.4346C>T	NP_001073991.2:p.Pro1449Leu
XM_005248177.1:c.4346C>T	XP_005248234.1:p.Pro1449Leu
XM_011513869.1:c.4364C>T	XP_011512171.1:p.Pro1455Leu
XM_011513870.1:c.4364C>T	XP_011512172.1:p.Pro1455Leu
XM_011513871.1:c.4217C>T	XP_011512173.1:p.Pro1406Leu
XM_017008482.1:c.4199C>T	XP_016863971.1:p.Pro1400Leu
NM_001378615.1:c.4346C>T MANE Select	NP_001365544.1:p.Pro1449Leu
NM_001378617.1:c.4199C>T	NP_001365546.1:p.Pro1400Leu