Canonical Allele Identifier: CA356418561

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 1407958
• ClinVar RCV Id: RCV001909727
• dbSNP Id: rs1349492467
• gnomAD v4: 4-15567683-G-A
• MyVariant Identifiers: chr4:g.15569306G>A (hg19) ; chr4:g.15567683G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15567683G>A , CM000666.2:g.15567683G>A	GRCh38
NC_000004.11:g.15569306G>A , CM000666.1:g.15569306G>A	GRCh37
NC_000004.10:g.15178404G>A	NCBI36
NG_013035.1:g.102818G>A , LRG_697:g.102818G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000389652.11:c.3310G>A	ENSP00000374303.8:p.Val1104Ile
ENST00000424120.6:c.3295G>A MANE Select	ENSP00000403465.1:p.Val1099Ile
ENST00000503292.6:c.3295G>A	ENSP00000421809.1:p.Val1099Ile
ENST00000506643.5:c.3148G>A	ENSP00000422931.2:p.Val1050Ile
ENST00000634028.2:c.3148G>A	ENSP00000488669.2:p.Val1050Ile
ENST00000650860.2:c.*301G>A	ENSP00000498775.1:n.*301G>A
ENST00000674945.1:c.3148G>A	ENSP00000502333.1:p.Val1050Ile
ENST00000675619.1:n.4106G>A
ENST00000675768.1:n.515G>A
ENST00000676337.1:c.*301G>A	ENSP00000501728.1:n.*301G>A
ENST00000680586.1:n.3954G>A
ENST00000389652.9:c.2772G>A
ENST00000424120.5:c.3295G>A	ENSP00000403465.1:p.Val1099Ile
ENST00000503292.5:c.3295G>A	ENSP00000421809.1:p.Val1099Ile
ENST00000506643.4:c.1623G>A
ENST00000634028.1:c.3278G>A	ENSP00000488669.1:n.3278G>A
NM_001080522.2:c.3295G>A , LRG_697t1:c.3295G>A	NP_001073991.2:p.Val1099Ile
XM_005248177.1:c.3295G>A	XP_005248234.1:p.Val1099Ile
XM_011513869.1:c.3295G>A	XP_011512171.1:p.Val1099Ile
XM_011513870.1:c.3295G>A	XP_011512172.1:p.Val1099Ile
XM_011513871.1:c.3148G>A	XP_011512173.1:p.Val1050Ile
XM_017008482.1:c.3148G>A	XP_016863971.1:p.Val1050Ile
XR_001741296.1:n.3540G>A
NM_001378615.1:c.3295G>A MANE Select	NP_001365544.1:p.Val1099Ile
NM_001378617.1:c.3148G>A	NP_001365546.1:p.Val1050Ile