Canonical Allele Identifier: CA122929543

Gene: ELL2

Linked Data

• dbSNP Id: rs569558576
• gnomAD v3: 5-95905409-G-A
• gnomAD v4: 5-95905409-G-A
• MyVariant Identifiers: chr5:g.95241113G>A (hg19) ; chr5:g.95905409G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95905409G>A , CM000667.2:g.95905409G>A	GRCh38
NC_000005.9:g.95241113G>A , CM000667.1:g.95241113G>A	GRCh37
NC_000005.8:g.95266869G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000237853.9:c.741+1114C>T MANE Select	ENSP00000237853.4:n.741+1114C>T
ENST00000237853.8:c.741+1114C>T	ENSP00000237853.4:n.741+1114C>T
ENST00000513343.1:c.196-4329C>T	ENSP00000423915.1:n.196-4329C>T
NM_012081.5:c.741+1114C>T	NP_036213.2:n.741+1114C>T
XM_006714575.1:c.576+1114C>T	XP_006714638.1:n.576+1114C>T
XM_011543280.1:c.345+1114C>T	XP_011541582.1:n.345+1114C>T
XM_006714575.3:c.576+1114C>T	XP_006714638.1:n.576+1114C>T
XM_017009239.1:c.741+1114C>T	XP_016864728.1:n.741+1114C>T
XM_017009240.2:c.345+1114C>T	XP_016864729.1:n.345+1114C>T
XM_017009241.2:c.345+1114C>T	XP_016864730.1:n.345+1114C>T
XM_017009242.1:c.345+1114C>T	XP_016864731.1:n.345+1114C>T
XM_017009243.2:c.186+1114C>T	XP_016864732.1:n.186+1114C>T
NM_012081.6:c.741+1114C>T MANE Select	NP_036213.2:n.741+1114C>T