Canonical Allele Identifier: CA122929574

Gene: ELL2

Linked Data

• dbSNP Id: rs929803837
• MyVariant Identifiers: chr5:g.95241153C>T (hg19) ; chr5:g.95905449C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95905449C>T , CM000667.2:g.95905449C>T	GRCh38
NC_000005.9:g.95241153C>T , CM000667.1:g.95241153C>T	GRCh37
NC_000005.8:g.95266909C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000237853.9:c.741+1074G>A MANE Select	ENSP00000237853.4:n.741+1074G>A
ENST00000237853.8:c.741+1074G>A	ENSP00000237853.4:n.741+1074G>A
ENST00000513343.1:c.196-4369G>A	ENSP00000423915.1:n.196-4369G>A
NM_012081.5:c.741+1074G>A	NP_036213.2:n.741+1074G>A
XM_006714575.1:c.576+1074G>A	XP_006714638.1:n.576+1074G>A
XM_011543280.1:c.345+1074G>A	XP_011541582.1:n.345+1074G>A
XM_006714575.3:c.576+1074G>A	XP_006714638.1:n.576+1074G>A
XM_017009239.1:c.741+1074G>A	XP_016864728.1:n.741+1074G>A
XM_017009240.2:c.345+1074G>A	XP_016864729.1:n.345+1074G>A
XM_017009241.2:c.345+1074G>A	XP_016864730.1:n.345+1074G>A
XM_017009242.1:c.345+1074G>A	XP_016864731.1:n.345+1074G>A
XM_017009243.2:c.186+1074G>A	XP_016864732.1:n.186+1074G>A
NM_012081.6:c.741+1074G>A MANE Select	NP_036213.2:n.741+1074G>A