Canonical Allele Identifier: CA134135569

Gene: ELOVL2

Linked Data

• dbSNP Id: rs921334809
• gnomAD v4: 6-10982302-C-A
• MyVariant Identifiers: chr6:g.10982535C>A (hg19) ; chr6:g.10982302C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10982302C>A , CM000668.2:g.10982302C>A	GRCh38
NC_000006.11:g.10982535C>A , CM000668.1:g.10982535C>A	GRCh37
NC_000006.10:g.11090521C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354666.4:c.*1479G>T MANE Select	ENSP00000346693.3:n.*1479G>T
ENST00000354666.3:c.*1479G>T	ENSP00000346693.3:n.*1479G>T
NM_017770.3:c.*1479G>T	NP_060240.3:n.*1479G>T
XM_011514716.1:c.*1479G>T	XP_011513018.1:n.*1479G>T
XM_011514717.1:c.*1479G>T	XP_011513019.1:n.*1479G>T
XM_011514716.3:c.*1479G>T	XP_011513018.1:n.*1479G>T
NM_017770.4:c.*1479G>T MANE Select	NP_060240.3:n.*1479G>T