Canonical Allele Identifier: CA398222347

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896311C>T (hg19) ; chr17:g.12992994C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992994C>T , CM000679.2:g.12992994C>T	GRCh38
NC_000017.10:g.12896311C>T , CM000679.1:g.12896311C>T	GRCh37
NC_000017.9:g.12837036C>T	NCBI36
NG_015808.1:g.30071G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2305G>A MANE Select	ENSP00000337445.4:p.Ala769Thr
ENST00000338034.8:c.2305G>A	ENSP00000337445.4:p.Ala769Thr
ENST00000395962.6:c.2248G>A	ENSP00000379291.1:p.Ala750Thr
ENST00000426905.7:c.2185G>A	ENSP00000405223.3:p.Ala729Thr
ENST00000465825.5:n.2192G>A
ENST00000480891.5:n.2134G>A
ENST00000484122.5:n.3135G>A
ENST00000487229.6:n.1851G>A
ENST00000584650.5:c.1704G>A
NM_001165962.1:c.2185G>A	NP_001159434.1:p.Ala729Thr
NM_018127.6:c.2305G>A	NP_060597.4:p.Ala769Thr
NM_173717.1:c.2302G>A	NP_776065.1:p.Ala768Thr
XM_024450850.1:c.2464G>A	XP_024306618.1:p.Ala822Thr
XM_024450851.1:c.2386G>A	XP_024306619.1:p.Ala796Thr
XM_024450852.1:c.2383G>A	XP_024306620.1:p.Ala795Thr
XM_024450853.1:c.2380G>A	XP_024306621.1:p.Ala794Thr
XM_024450854.1:c.2344G>A	XP_024306622.1:p.Ala782Thr
XM_024450855.1:c.2263G>A	XP_024306623.1:p.Ala755Thr
XM_024450856.1:c.2182G>A	XP_024306624.1:p.Ala728Thr
XM_024450857.1:c.2182G>A	XP_024306625.1:p.Ala728Thr
XM_024450858.1:c.2101G>A	XP_024306626.1:p.Ala701Thr
XM_024450859.1:c.2098G>A	XP_024306627.1:p.Ala700Thr
XM_024450860.1:c.2023G>A	XP_024306628.1:p.Ala675Thr
XM_024450861.1:c.2023G>A	XP_024306629.1:p.Ala675Thr
XM_024450862.1:c.2020G>A	XP_024306630.1:p.Ala674Thr
NM_018127.7:c.2305G>A MANE Select	NP_060597.4:p.Ala769Thr
NM_001165962.2:c.2185G>A	NP_001159434.1:p.Ala729Thr
NM_173717.2:c.2302G>A	NP_776065.1:p.Ala768Thr