Canonical Allele Identifier: CA356413405

Gene: CC2D2A

Linked Data

• gnomAD v4: 4-15540902-A-G
• MyVariant Identifiers: chr4:g.15542525A>G (hg19) ; chr4:g.15540902A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15540902A>G , CM000666.2:g.15540902A>G	GRCh38
NC_000004.11:g.15542525A>G , CM000666.1:g.15542525A>G	GRCh37
NC_000004.10:g.15151623A>G	NCBI36
NG_013035.1:g.76037A>G , LRG_697:g.76037A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000389652.11:c.2069A>G	ENSP00000374303.8:p.Asn690Ser
ENST00000424120.6:c.2069A>G MANE Select	ENSP00000403465.1:p.Asn690Ser
ENST00000503292.6:c.2069A>G	ENSP00000421809.1:p.Asn690Ser
ENST00000506643.5:c.1922A>G	ENSP00000422931.2:p.Asn641Ser
ENST00000634028.2:c.1922A>G	ENSP00000488669.2:p.Asn641Ser
ENST00000650860.2:c.1922A>G	ENSP00000498775.1:p.Asn641Ser
ENST00000674945.1:c.1922A>G	ENSP00000502333.1:p.Asn641Ser
ENST00000675619.1:n.148A>G
ENST00000676337.1:c.1922A>G	ENSP00000501728.1:p.Asn641Ser
ENST00000389652.9:c.1531A>G
ENST00000424120.5:c.2069A>G	ENSP00000403465.1:p.Asn690Ser
ENST00000503292.5:c.2069A>G	ENSP00000421809.1:p.Asn690Ser
ENST00000506643.4:c.397A>G
ENST00000513811.5:n.2249A>G
ENST00000634028.1:c.2052A>G	ENSP00000488669.1:n.2052A>G
NM_001080522.2:c.2069A>G , LRG_697t1:c.2069A>G	NP_001073991.2:p.Asn690Ser
XM_005248177.1:c.2069A>G	XP_005248234.1:p.Asn690Ser
XM_011513869.1:c.2069A>G	XP_011512171.1:p.Asn690Ser
XM_011513870.1:c.2069A>G	XP_011512172.1:p.Asn690Ser
XM_011513871.1:c.1922A>G	XP_011512173.1:p.Asn641Ser
XM_011513872.1:c.2069A>G	XP_011512174.1:p.Asn690Ser
XM_011513873.1:c.2069A>G	XP_011512175.1:p.Asn690Ser
XM_011513872.3:c.2069A>G	XP_011512174.1:p.Asn690Ser
XM_017008482.1:c.1922A>G	XP_016863971.1:p.Asn641Ser
XR_001741296.1:n.2269A>G
NM_001378615.1:c.2069A>G MANE Select	NP_001365544.1:p.Asn690Ser
NM_001378617.1:c.1922A>G	NP_001365546.1:p.Asn641Ser