Canonical Allele Identifier: CA398222082

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896176G>C (hg19) ; chr17:g.12992859G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992859G>C , CM000679.2:g.12992859G>C	GRCh38
NC_000017.10:g.12896176G>C , CM000679.1:g.12896176G>C	GRCh37
NC_000017.9:g.12836901G>C	NCBI36
NG_015808.1:g.30206C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2440C>G MANE Select	ENSP00000337445.4:p.His814Asp
ENST00000338034.8:c.2440C>G	ENSP00000337445.4:p.His814Asp
ENST00000395962.6:c.2383C>G	ENSP00000379291.1:p.His795Asp
ENST00000426905.7:c.2320C>G	ENSP00000405223.3:p.His774Asp
ENST00000465825.5:n.2327C>G
ENST00000480891.5:n.2269C>G
ENST00000484122.5:n.3270C>G
ENST00000487229.6:n.1986C>G
ENST00000584650.5:c.1839C>G
NM_001165962.1:c.2320C>G	NP_001159434.1:p.His774Asp
NM_018127.6:c.2440C>G	NP_060597.4:p.His814Asp
NM_173717.1:c.2437C>G	NP_776065.1:p.His813Asp
XM_024450850.1:c.2599C>G	XP_024306618.1:p.His867Asp
XM_024450851.1:c.2521C>G	XP_024306619.1:p.His841Asp
XM_024450852.1:c.2518C>G	XP_024306620.1:p.His840Asp
XM_024450853.1:c.2515C>G	XP_024306621.1:p.His839Asp
XM_024450854.1:c.2479C>G	XP_024306622.1:p.His827Asp
XM_024450855.1:c.2398C>G	XP_024306623.1:p.His800Asp
XM_024450856.1:c.2317C>G	XP_024306624.1:p.His773Asp
XM_024450857.1:c.2317C>G	XP_024306625.1:p.His773Asp
XM_024450858.1:c.2236C>G	XP_024306626.1:p.His746Asp
XM_024450859.1:c.2233C>G	XP_024306627.1:p.His745Asp
XM_024450860.1:c.2158C>G	XP_024306628.1:p.His720Asp
XM_024450861.1:c.2158C>G	XP_024306629.1:p.His720Asp
XM_024450862.1:c.2155C>G	XP_024306630.1:p.His719Asp
NM_018127.7:c.2440C>G MANE Select	NP_060597.4:p.His814Asp
NM_001165962.2:c.2320C>G	NP_001159434.1:p.His774Asp
NM_173717.2:c.2437C>G	NP_776065.1:p.His813Asp