Canonical Allele Identifier: CA2592000304
Gene: ELOVL2 HGNC NCBI

Linked Data

dbSNP Id: rs2113453706
gnomAD v3: 6-10982288-G-A
gnomAD v4: 6-10982288-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10982288G>A , CM000668.2:g.10982288G>A GRCh38
NC_000006.11:g.10982521G>A , CM000668.1:g.10982521G>A GRCh37
NC_000006.10:g.11090507G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000354666.4:c.*1493C>T MANE Select ENSP00000346693.3:n.*1493C>T
ENST00000354666.3:c.*1493C>T ENSP00000346693.3:n.*1493C>T
NM_017770.3:c.*1493C>T NP_060240.3:n.*1493C>T
XM_011514716.1:c.*1493C>T XP_011513018.1:n.*1493C>T
XM_011514717.1:c.*1493C>T XP_011513019.1:n.*1493C>T
XM_011514716.3:c.*1493C>T XP_011513018.1:n.*1493C>T
NM_017770.4:c.*1493C>T MANE Select NP_060240.3:n.*1493C>T
Search 100 bp 5'
Search 100 bp 3'