Canonical Allele Identifier: CA2864006

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 281114
• ClinVar RCV Id: RCV000373113 ; RCV000440940 ; RCV001088602 ; RCV004542970
• dbSNP Id: rs61740537
• ExAC: 4:15559114 T / C
• gnomAD v2: 4-15559114-T-C
• gnomAD v3: 4-15557491-T-C
• gnomAD v4: 4-15557491-T-C
• MyVariant Identifiers: chr4:g.15559114T>C (hg19) ; chr4:g.15557491T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15557491T>C , CM000666.2:g.15557491T>C	GRCh38
NC_000004.11:g.15559114T>C , CM000666.1:g.15559114T>C	GRCh37
NC_000004.10:g.15168212T>C	NCBI36
NG_013035.1:g.92626T>C , LRG_697:g.92626T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.2813T>C	ENSP00000374303.8:p.Met938Thr
ENST00000424120.6:c.2813T>C MANE Select	ENSP00000403465.1:p.Met938Thr
ENST00000503292.6:c.2813T>C	ENSP00000421809.1:p.Met938Thr
ENST00000506643.5:c.2666T>C	ENSP00000422931.2:p.Met889Thr
ENST00000634028.2:c.2666T>C	ENSP00000488669.2:p.Met889Thr
ENST00000650860.2:c.2666T>C	ENSP00000498775.1:p.Met889Thr
ENST00000674945.1:c.2666T>C	ENSP00000502333.1:p.Met889Thr
ENST00000675619.1:n.892T>C
ENST00000675768.1:n.33T>C
ENST00000676337.1:c.2666T>C	ENSP00000501728.1:p.Met889Thr
ENST00000680586.1:n.740T>C
ENST00000389652.9:c.2275T>C
ENST00000424120.5:c.2813T>C	ENSP00000403465.1:p.Met938Thr
ENST00000503292.5:c.2813T>C	ENSP00000421809.1:p.Met938Thr
ENST00000506643.4:c.1141T>C
ENST00000634028.1:c.2796T>C	ENSP00000488669.1:n.2796T>C
NM_001080522.2:c.2813T>C , LRG_697t1:c.2813T>C	NP_001073991.2:p.Met938Thr
XM_005248177.1:c.2813T>C	XP_005248234.1:p.Met938Thr
XM_011513869.1:c.2813T>C	XP_011512171.1:p.Met938Thr
XM_011513870.1:c.2813T>C	XP_011512172.1:p.Met938Thr
XM_011513871.1:c.2666T>C	XP_011512173.1:p.Met889Thr
XM_011513872.1:c.2813T>C	XP_011512174.1:p.Met938Thr
XM_011513873.1:c.2813T>C	XP_011512175.1:p.Met938Thr
XM_011513872.3:c.2813T>C	XP_011512174.1:p.Met938Thr
XM_017008482.1:c.2666T>C	XP_016863971.1:p.Met889Thr
XR_001741296.1:n.3013T>C
NM_001378615.1:c.2813T>C MANE Select	NP_001365544.1:p.Met938Thr
NM_001378617.1:c.2666T>C	NP_001365546.1:p.Met889Thr