Canonical Allele Identifier: CA12180909
Gene: ELOVL2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.10982740T>C
GRCh37 chr6:g.10982973T>C
gnomAD v2:
6:10982973 T / C
gnomAD v3:
6:10982740 T / C
gnomAD v4:
chr6-10982740-T-C
Joint Max Group AF 0.88398938 (EAS)
Genomes Max Group AF 0.88398938 (EAS)
Exomes Max Group AF 0.13628107 (NFE)
dbSNP:
3734398
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10982740T>C , CM000668.2:g.10982740T>C GRCh38
NC_000006.11:g.10982973T>C , CM000668.1:g.10982973T>C GRCh37
NC_000006.10:g.11090959T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000354666.4:c.*1041A>G MANE Select ENSP00000346693.3:n.*1041A>G
ENST00000354666.3:c.*1041A>G ENSP00000346693.3:n.*1041A>G
NM_017770.3:c.*1041A>G NP_060240.3:n.*1041A>G
XM_011514716.1:c.*1041A>G XP_011513018.1:n.*1041A>G
XM_011514717.1:c.*1041A>G XP_011513019.1:n.*1041A>G
XM_011514716.3:c.*1041A>G XP_011513018.1:n.*1041A>G
NM_017770.4:c.*1041A>G MANE Select NP_060240.3:n.*1041A>G
Search 100 bp 5'
Search 100 bp 3'