Canonical Allele Identifier: CA134135474

Gene: ELOVL2

Linked Data

• dbSNP Id: rs547445375
• gnomAD v2: 6-10982280-C-T
• gnomAD v3: 6-10982047-C-T
• gnomAD v4: 6-10982047-C-T
• MyVariant Identifiers: chr6:g.10982280C>T (hg19) ; chr6:g.10982047C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10982047C>T , CM000668.2:g.10982047C>T	GRCh38
NC_000006.11:g.10982280C>T , CM000668.1:g.10982280C>T	GRCh37
NC_000006.10:g.11090266C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354666.4:c.*1734G>A MANE Select	ENSP00000346693.3:n.*1734G>A
ENST00000354666.3:c.*1734G>A	ENSP00000346693.3:n.*1734G>A
NM_017770.3:c.*1734G>A	NP_060240.3:n.*1734G>A
XM_011514716.1:c.*1734G>A	XP_011513018.1:n.*1734G>A
XM_011514717.1:c.*1734G>A	XP_011513019.1:n.*1734G>A
XM_011514716.3:c.*1734G>A	XP_011513018.1:n.*1734G>A
NM_017770.4:c.*1734G>A MANE Select	NP_060240.3:n.*1734G>A