Canonical Allele Identifier: CA398222394

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896335G>A (hg19) ; chr17:g.12993018G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993018G>A , CM000679.2:g.12993018G>A	GRCh38
NC_000017.10:g.12896335G>A , CM000679.1:g.12896335G>A	GRCh37
NC_000017.9:g.12837060G>A	NCBI36
NG_015808.1:g.30047C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2281C>T MANE Select	ENSP00000337445.4:p.Pro761Ser
ENST00000338034.8:c.2281C>T	ENSP00000337445.4:p.Pro761Ser
ENST00000395962.6:c.2224C>T	ENSP00000379291.1:p.Pro742Ser
ENST00000426905.7:c.2161C>T	ENSP00000405223.3:p.Pro721Ser
ENST00000465825.5:n.2168C>T
ENST00000480891.5:n.2110C>T
ENST00000484122.5:n.3111C>T
ENST00000487229.6:n.1827C>T
ENST00000584650.5:c.1680C>T
NM_001165962.1:c.2161C>T	NP_001159434.1:p.Pro721Ser
NM_018127.6:c.2281C>T	NP_060597.4:p.Pro761Ser
NM_173717.1:c.2278C>T	NP_776065.1:p.Pro760Ser
XM_024450850.1:c.2440C>T	XP_024306618.1:p.Pro814Ser
XM_024450851.1:c.2362C>T	XP_024306619.1:p.Pro788Ser
XM_024450852.1:c.2359C>T	XP_024306620.1:p.Pro787Ser
XM_024450853.1:c.2356C>T	XP_024306621.1:p.Pro786Ser
XM_024450854.1:c.2320C>T	XP_024306622.1:p.Pro774Ser
XM_024450855.1:c.2239C>T	XP_024306623.1:p.Pro747Ser
XM_024450856.1:c.2158C>T	XP_024306624.1:p.Pro720Ser
XM_024450857.1:c.2158C>T	XP_024306625.1:p.Pro720Ser
XM_024450858.1:c.2077C>T	XP_024306626.1:p.Pro693Ser
XM_024450859.1:c.2074C>T	XP_024306627.1:p.Pro692Ser
XM_024450860.1:c.1999C>T	XP_024306628.1:p.Pro667Ser
XM_024450861.1:c.1999C>T	XP_024306629.1:p.Pro667Ser
XM_024450862.1:c.1996C>T	XP_024306630.1:p.Pro666Ser
NM_018127.7:c.2281C>T MANE Select	NP_060597.4:p.Pro761Ser
NM_001165962.2:c.2161C>T	NP_001159434.1:p.Pro721Ser
NM_173717.2:c.2278C>T	NP_776065.1:p.Pro760Ser