Canonical Allele Identifier: CA9245172
Gene: CC2D1A HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.13929607G>A
GRCh37 chr19:g.14040420G>A
Revel Score:
ENST00000318003 (MANE Select) 0.033
ENST00000254346 0.033
gnomAD v2:
19:14040420 G / A
gnomAD v3:
19:13929607 G / A
gnomAD v4:
chr19-13929607-G-A
Joint Max Group AF 0.00154856 (NFE)
Genomes Max Group AF 0.00105265 (NFE)
Exomes Max Group AF 0.00156716 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13929607G>A , CM000681.2:g.13929607G>A GRCh38
NC_000019.9:g.14040420G>A , CM000681.1:g.14040420G>A GRCh37
NC_000019.8:g.13901420G>A NCBI36
NG_013089.1:g.28465G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000679637.1:n.2081G>A
ENST00000679937.1:n.1356G>A
ENST00000680977.1:c.1507G>A
ENST00000681428.1:n.1581G>A
ENST00000681846.1:n.1511G>A
ENST00000318003.11:c.2657G>A MANE Select ENSP00000313601.6:p.Arg886His
ENST00000586955.5:c.2060G>A
ENST00000587508.1:c.1018G>A
ENST00000589606.5:c.2654G>A ENSP00000467526.1:p.Arg885His
NM_017721.4:c.2657G>A NP_060191.3:p.Arg886His
XM_005259972.2:c.2654G>A XP_005260029.1:p.Arg885His
XM_005259973.2:c.2654G>A XP_005260030.1:p.Arg885His
XM_005259974.2:c.2645G>A XP_005260031.1:p.Arg882His
XM_005259975.2:c.2642G>A XP_005260032.1:p.Arg881His
XM_005259973.3:c.2654G>A XP_005260030.1:p.Arg885His
XM_005259974.3:c.2645G>A XP_005260031.1:p.Arg882His
XM_024451562.1:c.2750G>A XP_024307330.1:p.Arg917His
XM_024451563.1:c.2747G>A XP_024307331.1:p.Arg916His
XM_024451564.1:c.2738G>A XP_024307332.1:p.Arg913His
XM_024451565.1:c.2735G>A XP_024307333.1:p.Arg912His
NM_017721.5:c.2657G>A MANE Select NP_060191.3:p.Arg886His
Search 100 bp 5'
Search 100 bp 3'