Canonical Allele Identifier: CA1085973457

Gene: ELOVL2

Linked Data

• dbSNP Id: rs1781942197
• gnomAD v3: 6-10981938-C-CTT
• gnomAD v4: 6-10981938-C-CTT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10981939_10981940dup , CM000668.2:g.10981939_10981940dup	GRCh38
NC_000006.11:g.10982172_10982173dup , CM000668.1:g.10982172_10982173dup	GRCh37
NC_000006.10:g.11090158_11090159dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354666.4:c.*1841_*1842dup MANE Select	ENSP00000346693.3:n.*1841_*1842dup
ENST00000354666.3:c.*1841_*1842dup	ENSP00000346693.3:n.*1841_*1842dup
NM_017770.3:c.*1841_*1842dup	NP_060240.3:n.*1841_*1842dup
XM_011514716.1:c.*1841_*1842dup	XP_011513018.1:n.*1841_*1842dup
XM_011514717.1:c.*1841_*1842dup	XP_011513019.1:n.*1841_*1842dup
XM_011514716.3:c.*1841_*1842dup	XP_011513018.1:n.*1841_*1842dup
NM_017770.4:c.*1841_*1842dup MANE Select	NP_060240.3:n.*1841_*1842dup