Canonical Allele Identifier: CA2677321338
Gene: ELOVL2 HGNC NCBI

Linked Data

gnomAD v4: 6-10982128-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10982128C>A , CM000668.2:g.10982128C>A GRCh38
NC_000006.11:g.10982361C>A , CM000668.1:g.10982361C>A GRCh37
NC_000006.10:g.11090347C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000354666.4:c.*1653G>T MANE Select ENSP00000346693.3:n.*1653G>T
ENST00000354666.3:c.*1653G>T ENSP00000346693.3:n.*1653G>T
NM_017770.3:c.*1653G>T NP_060240.3:n.*1653G>T
XM_011514716.1:c.*1653G>T XP_011513018.1:n.*1653G>T
XM_011514717.1:c.*1653G>T XP_011513019.1:n.*1653G>T
XM_011514716.3:c.*1653G>T XP_011513018.1:n.*1653G>T
NM_017770.4:c.*1653G>T MANE Select NP_060240.3:n.*1653G>T