Canonical Allele Identifier: CA398222364

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12993003-G-A
• MyVariant Identifiers: chr17:g.12896320G>A (hg19) ; chr17:g.12993003G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993003G>A , CM000679.2:g.12993003G>A	GRCh38
NC_000017.10:g.12896320G>A , CM000679.1:g.12896320G>A	GRCh37
NC_000017.9:g.12837045G>A	NCBI36
NG_015808.1:g.30062C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2296C>T MANE Select	ENSP00000337445.4:p.Pro766Ser
ENST00000338034.8:c.2296C>T	ENSP00000337445.4:p.Pro766Ser
ENST00000395962.6:c.2239C>T	ENSP00000379291.1:p.Pro747Ser
ENST00000426905.7:c.2176C>T	ENSP00000405223.3:p.Pro726Ser
ENST00000465825.5:n.2183C>T
ENST00000480891.5:n.2125C>T
ENST00000484122.5:n.3126C>T
ENST00000487229.6:n.1842C>T
ENST00000584650.5:c.1695C>T
NM_001165962.1:c.2176C>T	NP_001159434.1:p.Pro726Ser
NM_018127.6:c.2296C>T	NP_060597.4:p.Pro766Ser
NM_173717.1:c.2293C>T	NP_776065.1:p.Pro765Ser
XM_024450850.1:c.2455C>T	XP_024306618.1:p.Pro819Ser
XM_024450851.1:c.2377C>T	XP_024306619.1:p.Pro793Ser
XM_024450852.1:c.2374C>T	XP_024306620.1:p.Pro792Ser
XM_024450853.1:c.2371C>T	XP_024306621.1:p.Pro791Ser
XM_024450854.1:c.2335C>T	XP_024306622.1:p.Pro779Ser
XM_024450855.1:c.2254C>T	XP_024306623.1:p.Pro752Ser
XM_024450856.1:c.2173C>T	XP_024306624.1:p.Pro725Ser
XM_024450857.1:c.2173C>T	XP_024306625.1:p.Pro725Ser
XM_024450858.1:c.2092C>T	XP_024306626.1:p.Pro698Ser
XM_024450859.1:c.2089C>T	XP_024306627.1:p.Pro697Ser
XM_024450860.1:c.2014C>T	XP_024306628.1:p.Pro672Ser
XM_024450861.1:c.2014C>T	XP_024306629.1:p.Pro672Ser
XM_024450862.1:c.2011C>T	XP_024306630.1:p.Pro671Ser
NM_018127.7:c.2296C>T MANE Select	NP_060597.4:p.Pro766Ser
NM_001165962.2:c.2176C>T	NP_001159434.1:p.Pro726Ser
NM_173717.2:c.2293C>T	NP_776065.1:p.Pro765Ser