Canonical Allele Identifier: CA2864150

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 1419708
• ClinVar RCV Id: RCV001940718
• dbSNP Id: rs746358327
• ExAC: 4:15569385 A / G
• gnomAD v2: 4-15569385-A-G
• gnomAD v3: 4-15567762-A-G
• gnomAD v4: 4-15567762-A-G
• MyVariant Identifiers: chr4:g.15569385A>G (hg19) ; chr4:g.15567762A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15567762A>G , CM000666.2:g.15567762A>G	GRCh38
NC_000004.11:g.15569385A>G , CM000666.1:g.15569385A>G	GRCh37
NC_000004.10:g.15178483A>G	NCBI36
NG_013035.1:g.102897A>G , LRG_697:g.102897A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000389652.11:c.3389A>G	ENSP00000374303.8:p.Asn1130Ser
ENST00000424120.6:c.3374A>G MANE Select	ENSP00000403465.1:p.Asn1125Ser
ENST00000503292.6:c.3374A>G	ENSP00000421809.1:p.Asn1125Ser
ENST00000506643.5:c.3227A>G	ENSP00000422931.2:p.Asn1076Ser
ENST00000634028.2:c.3227A>G	ENSP00000488669.2:p.Asn1076Ser
ENST00000650860.2:c.*380A>G	ENSP00000498775.1:n.*380A>G
ENST00000674945.1:c.3227A>G	ENSP00000502333.1:p.Asn1076Ser
ENST00000675619.1:n.4185A>G
ENST00000675768.1:n.594A>G
ENST00000676337.1:c.*380A>G	ENSP00000501728.1:n.*380A>G
ENST00000680586.1:n.4033A>G
ENST00000389652.9:c.2851A>G
ENST00000424120.5:c.3374A>G	ENSP00000403465.1:p.Asn1125Ser
ENST00000503292.5:c.3374A>G	ENSP00000421809.1:p.Asn1125Ser
ENST00000506643.4:c.1702A>G
ENST00000634028.1:c.3357A>G	ENSP00000488669.1:n.3357A>G
NM_001080522.2:c.3374A>G , LRG_697t1:c.3374A>G	NP_001073991.2:p.Asn1125Ser
XM_005248177.1:c.3374A>G	XP_005248234.1:p.Asn1125Ser
XM_011513869.1:c.3374A>G	XP_011512171.1:p.Asn1125Ser
XM_011513870.1:c.3374A>G	XP_011512172.1:p.Asn1125Ser
XM_011513871.1:c.3227A>G	XP_011512173.1:p.Asn1076Ser
XM_017008482.1:c.3227A>G	XP_016863971.1:p.Asn1076Ser
XR_001741296.1:n.3619A>G
NM_001378615.1:c.3374A>G MANE Select	NP_001365544.1:p.Asn1125Ser
NM_001378617.1:c.3227A>G	NP_001365546.1:p.Asn1076Ser