Canonical Allele Identifier: CA208880

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 210608
• ClinVar RCV Id: RCV000194608 ; RCV000862063 ; RCV001149616 ; RCV001149617 ; RCV001705077
• dbSNP Id: rs16892134
• ExAC: 4:15539735 G / A
• gnomAD v2: 4-15539735-G-A
• gnomAD v3: 4-15538112-G-A
• gnomAD v4: 4-15538112-G-A
• MyVariant Identifiers: chr4:g.15539735G>A (hg19) ; chr4:g.15538112G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15538112G>A , CM000666.2:g.15538112G>A	GRCh38
NC_000004.11:g.15539735G>A , CM000666.1:g.15539735G>A	GRCh37
NC_000004.10:g.15148833G>A	NCBI36
NG_013035.1:g.73247G>A , LRG_697:g.73247G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.1978G>A	ENSP00000374303.8:p.Val660Ile
ENST00000424120.6:c.1978G>A MANE Select	ENSP00000403465.1:p.Val660Ile
ENST00000503292.6:c.1978G>A	ENSP00000421809.1:p.Val660Ile
ENST00000506643.5:c.1831G>A	ENSP00000422931.2:p.Val611Ile
ENST00000512702.6:c.1978G>A	ENSP00000422875.2:p.Val660Ile
ENST00000634028.2:c.1831G>A	ENSP00000488669.2:p.Val611Ile
ENST00000650860.2:c.1831G>A	ENSP00000498775.1:p.Val611Ile
ENST00000651385.1:c.1831G>A	ENSP00000499005.1:p.Val611Ile
ENST00000674945.1:c.1831G>A	ENSP00000502333.1:p.Val611Ile
ENST00000675619.1:n.57G>A
ENST00000676337.1:c.1831G>A	ENSP00000501728.1:p.Val611Ile
ENST00000389652.9:c.1440G>A
ENST00000424120.5:c.1978G>A	ENSP00000403465.1:p.Val660Ile
ENST00000503292.5:c.1978G>A	ENSP00000421809.1:p.Val660Ile
ENST00000506643.4:c.306G>A
ENST00000513811.5:n.2158G>A
ENST00000634028.1:c.1961G>A	ENSP00000488669.1:n.1961G>A
NM_001080522.2:c.1978G>A , LRG_697t1:c.1978G>A	NP_001073991.2:p.Val660Ile
XM_005248177.1:c.1978G>A	XP_005248234.1:p.Val660Ile
XM_011513869.1:c.1978G>A	XP_011512171.1:p.Val660Ile
XM_011513870.1:c.1978G>A	XP_011512172.1:p.Val660Ile
XM_011513871.1:c.1831G>A	XP_011512173.1:p.Val611Ile
XM_011513872.1:c.1978G>A	XP_011512174.1:p.Val660Ile
XM_011513873.1:c.1978G>A	XP_011512175.1:p.Val660Ile
XM_011513872.3:c.1978G>A	XP_011512174.1:p.Val660Ile
XM_017008482.1:c.1831G>A	XP_016863971.1:p.Val611Ile
XR_001741296.1:n.2178G>A
NM_001378615.1:c.1978G>A MANE Select	NP_001365544.1:p.Val660Ile
NM_001378617.1:c.1831G>A	NP_001365546.1:p.Val611Ile