Canonical Allele Identifier: CA122929675

Gene: ELL2

Linked Data

• dbSNP Id: rs35680288
• gnomAD v2: 5-95241205-T-TCTC
• gnomAD v3: 5-95905501-T-TCTC
• gnomAD v4: 5-95905501-T-TCTC
• MyVariant Identifiers: chr5:g.95241205_95241206insCTC (hg19) ; chr5:g.95905501_95905502insCTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95905503_95905504insCCT , CM000667.2:g.95905503_95905504insCCT	GRCh38
NC_000005.9:g.95241207_95241208insCCT , CM000667.1:g.95241207_95241208insCCT	GRCh37
NC_000005.8:g.95266963_95266964insCCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237853.9:c.741+1021_741+1022insGAG MANE Select	ENSP00000237853.4:n.741+1021_741+1022insGAG
ENST00000237853.8:c.741+1021_741+1022insGAG	ENSP00000237853.4:n.741+1021_741+1022insGAG
ENST00000513343.1:c.196-4422_196-4421insGAG	ENSP00000423915.1:n.196-4422_196-4421insGAG
NM_012081.5:c.741+1021_741+1022insGAG	NP_036213.2:n.741+1021_741+1022insGAG
XM_006714575.1:c.576+1021_576+1022insGAG	XP_006714638.1:n.576+1021_576+1022insGAG
XM_011543280.1:c.345+1021_345+1022insGAG	XP_011541582.1:n.345+1021_345+1022insGAG
XM_006714575.3:c.576+1021_576+1022insGAG	XP_006714638.1:n.576+1021_576+1022insGAG
XM_017009239.1:c.741+1021_741+1022insGAG	XP_016864728.1:n.741+1021_741+1022insGAG
XM_017009240.2:c.345+1021_345+1022insGAG	XP_016864729.1:n.345+1021_345+1022insGAG
XM_017009241.2:c.345+1021_345+1022insGAG	XP_016864730.1:n.345+1021_345+1022insGAG
XM_017009242.1:c.345+1021_345+1022insGAG	XP_016864731.1:n.345+1021_345+1022insGAG
XM_017009243.2:c.186+1021_186+1022insGAG	XP_016864732.1:n.186+1021_186+1022insGAG
NM_012081.6:c.741+1021_741+1022insGAG MANE Select	NP_036213.2:n.741+1021_741+1022insGAG