Canonical Allele Identifier: CA2677321310
Gene: ELOVL2 HGNC NCBI

Linked Data

gnomAD v4: 6-10982049-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10982049T>C , CM000668.2:g.10982049T>C GRCh38
NC_000006.11:g.10982282T>C , CM000668.1:g.10982282T>C GRCh37
NC_000006.10:g.11090268T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000354666.4:c.*1732A>G MANE Select ENSP00000346693.3:n.*1732A>G
ENST00000354666.3:c.*1732A>G ENSP00000346693.3:n.*1732A>G
NM_017770.3:c.*1732A>G NP_060240.3:n.*1732A>G
XM_011514716.1:c.*1732A>G XP_011513018.1:n.*1732A>G
XM_011514717.1:c.*1732A>G XP_011513019.1:n.*1732A>G
XM_011514716.3:c.*1732A>G XP_011513018.1:n.*1732A>G
NM_017770.4:c.*1732A>G MANE Select NP_060240.3:n.*1732A>G