Canonical Allele Identifier: CA398222255

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896269C>A (hg19) ; chr17:g.12992952C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992952C>A , CM000679.2:g.12992952C>A	GRCh38
NC_000017.10:g.12896269C>A , CM000679.1:g.12896269C>A	GRCh37
NC_000017.9:g.12836994C>A	NCBI36
NG_015808.1:g.30113G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2347G>T MANE Select	ENSP00000337445.4:p.Glu783Ter
ENST00000338034.8:c.2347G>T	ENSP00000337445.4:p.Glu783Ter
ENST00000395962.6:c.2290G>T	ENSP00000379291.1:p.Glu764Ter
ENST00000426905.7:c.2227G>T	ENSP00000405223.3:p.Glu743Ter
ENST00000465825.5:n.2234G>T
ENST00000480891.5:n.2176G>T
ENST00000484122.5:n.3177G>T
ENST00000487229.6:n.1893G>T
ENST00000584650.5:c.1746G>T
NM_001165962.1:c.2227G>T	NP_001159434.1:p.Glu743Ter
NM_018127.6:c.2347G>T	NP_060597.4:p.Glu783Ter
NM_173717.1:c.2344G>T	NP_776065.1:p.Glu782Ter
XM_024450850.1:c.2506G>T	XP_024306618.1:p.Glu836Ter
XM_024450851.1:c.2428G>T	XP_024306619.1:p.Glu810Ter
XM_024450852.1:c.2425G>T	XP_024306620.1:p.Glu809Ter
XM_024450853.1:c.2422G>T	XP_024306621.1:p.Glu808Ter
XM_024450854.1:c.2386G>T	XP_024306622.1:p.Glu796Ter
XM_024450855.1:c.2305G>T	XP_024306623.1:p.Glu769Ter
XM_024450856.1:c.2224G>T	XP_024306624.1:p.Glu742Ter
XM_024450857.1:c.2224G>T	XP_024306625.1:p.Glu742Ter
XM_024450858.1:c.2143G>T	XP_024306626.1:p.Glu715Ter
XM_024450859.1:c.2140G>T	XP_024306627.1:p.Glu714Ter
XM_024450860.1:c.2065G>T	XP_024306628.1:p.Glu689Ter
XM_024450861.1:c.2065G>T	XP_024306629.1:p.Glu689Ter
XM_024450862.1:c.2062G>T	XP_024306630.1:p.Glu688Ter
NM_018127.7:c.2347G>T MANE Select	NP_060597.4:p.Glu783Ter
NM_001165962.2:c.2227G>T	NP_001159434.1:p.Glu743Ter
NM_173717.2:c.2344G>T	NP_776065.1:p.Glu782Ter