Canonical Allele Identifier: CA815840326

Gene: ELL2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95907227T>A , CM000667.2:g.95907227T>A	GRCh38
NC_000005.9:g.95242931T>A , CM000667.1:g.95242931T>A	GRCh37
NC_000005.8:g.95268687T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237853.9:c.482-445A>T MANE Select	ENSP00000237853.4:n.482-445A>T
ENST00000237853.8:c.482-445A>T	ENSP00000237853.4:n.482-445A>T
ENST00000506628.1:n.262-445A>T
ENST00000513343.1:c.196-6147A>T	ENSP00000423915.1:n.196-6147A>T
NM_012081.5:c.482-445A>T	NP_036213.2:n.482-445A>T
XM_006714575.1:c.317-445A>T	XP_006714638.1:n.317-445A>T
XM_011543280.1:c.86-445A>T	XP_011541582.1:n.86-445A>T
XM_006714575.3:c.317-445A>T	XP_006714638.1:n.317-445A>T
XM_017009239.1:c.482-445A>T	XP_016864728.1:n.482-445A>T
XM_017009240.2:c.86-445A>T	XP_016864729.1:n.86-445A>T
XM_017009241.2:c.86-445A>T	XP_016864730.1:n.86-445A>T
XM_017009242.1:c.86-445A>T	XP_016864731.1:n.86-445A>T
XM_017009243.2:c.-168-351A>T	XP_016864732.1:n.-168-351A>T
NM_012081.6:c.482-445A>T MANE Select	NP_036213.2:n.482-445A>T