Canonical Allele Identifier: CA122929693

Gene: ELL2

Linked Data

• dbSNP Id: rs62364433
• gnomAD v2: 5-95241242-T-C
• gnomAD v3: 5-95905538-T-C
• gnomAD v4: 5-95905538-T-C
• MyVariant Identifiers: chr5:g.95241242T>C (hg19) ; chr5:g.95905538T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95905538T>C , CM000667.2:g.95905538T>C	GRCh38
NC_000005.9:g.95241242T>C , CM000667.1:g.95241242T>C	GRCh37
NC_000005.8:g.95266998T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237853.9:c.741+985A>G MANE Select	ENSP00000237853.4:n.741+985A>G
ENST00000237853.8:c.741+985A>G	ENSP00000237853.4:n.741+985A>G
ENST00000513343.1:c.196-4458A>G	ENSP00000423915.1:n.196-4458A>G
NM_012081.5:c.741+985A>G	NP_036213.2:n.741+985A>G
XM_006714575.1:c.576+985A>G	XP_006714638.1:n.576+985A>G
XM_011543280.1:c.345+985A>G	XP_011541582.1:n.345+985A>G
XM_006714575.3:c.576+985A>G	XP_006714638.1:n.576+985A>G
XM_017009239.1:c.741+985A>G	XP_016864728.1:n.741+985A>G
XM_017009240.2:c.345+985A>G	XP_016864729.1:n.345+985A>G
XM_017009241.2:c.345+985A>G	XP_016864730.1:n.345+985A>G
XM_017009242.1:c.345+985A>G	XP_016864731.1:n.345+985A>G
XM_017009243.2:c.186+985A>G	XP_016864732.1:n.186+985A>G
NM_012081.6:c.741+985A>G MANE Select	NP_036213.2:n.741+985A>G