Canonical Allele Identifier: CA1610232329

Gene: ELOVL2

Linked Data

• dbSNP Id: rs1781952763
• gnomAD v3: 6-10982326-CTAA-C
• gnomAD v4: 6-10982326-CTAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10982328_10982330del , CM000668.2:g.10982328_10982330del	GRCh38
NC_000006.11:g.10982561_10982563del , CM000668.1:g.10982561_10982563del	GRCh37
NC_000006.10:g.11090547_11090549del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354666.4:c.*1452_*1454del MANE Select	ENSP00000346693.3:n.*1452_*1454del
ENST00000354666.3:c.*1452_*1454del	ENSP00000346693.3:n.*1452_*1454del
NM_017770.3:c.*1452_*1454del	NP_060240.3:n.*1452_*1454del
XM_011514716.1:c.*1452_*1454del	XP_011513018.1:n.*1452_*1454del
XM_011514717.1:c.*1452_*1454del	XP_011513019.1:n.*1452_*1454del
XM_011514716.3:c.*1452_*1454del	XP_011513018.1:n.*1452_*1454del
NM_017770.4:c.*1452_*1454del MANE Select	NP_060240.3:n.*1452_*1454del