Canonical Allele Identifier: CA398222258

Gene: ELAC2

Linked Data

• dbSNP Id: rs1280288863
• gnomAD v2: 17-12896270-C-A
• gnomAD v4: 17-12992953-C-A
• MyVariant Identifiers: chr17:g.12896270C>A (hg19) ; chr17:g.12992953C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992953C>A , CM000679.2:g.12992953C>A	GRCh38
NC_000017.10:g.12896270C>A , CM000679.1:g.12896270C>A	GRCh37
NC_000017.9:g.12836995C>A	NCBI36
NG_015808.1:g.30112G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2346G>T MANE Select	ENSP00000337445.4:p.Arg782Ser
ENST00000338034.8:c.2346G>T	ENSP00000337445.4:p.Arg782Ser
ENST00000395962.6:c.2289G>T	ENSP00000379291.1:p.Arg763Ser
ENST00000426905.7:c.2226G>T	ENSP00000405223.3:p.Arg742Ser
ENST00000465825.5:n.2233G>T
ENST00000480891.5:n.2175G>T
ENST00000484122.5:n.3176G>T
ENST00000487229.6:n.1892G>T
ENST00000584650.5:c.1745G>T
NM_001165962.1:c.2226G>T	NP_001159434.1:p.Arg742Ser
NM_018127.6:c.2346G>T	NP_060597.4:p.Arg782Ser
NM_173717.1:c.2343G>T	NP_776065.1:p.Arg781Ser
XM_024450850.1:c.2505G>T	XP_024306618.1:p.Arg835Ser
XM_024450851.1:c.2427G>T	XP_024306619.1:p.Arg809Ser
XM_024450852.1:c.2424G>T	XP_024306620.1:p.Arg808Ser
XM_024450853.1:c.2421G>T	XP_024306621.1:p.Arg807Ser
XM_024450854.1:c.2385G>T	XP_024306622.1:p.Arg795Ser
XM_024450855.1:c.2304G>T	XP_024306623.1:p.Arg768Ser
XM_024450856.1:c.2223G>T	XP_024306624.1:p.Arg741Ser
XM_024450857.1:c.2223G>T	XP_024306625.1:p.Arg741Ser
XM_024450858.1:c.2142G>T	XP_024306626.1:p.Arg714Ser
XM_024450859.1:c.2139G>T	XP_024306627.1:p.Arg713Ser
XM_024450860.1:c.2064G>T	XP_024306628.1:p.Arg688Ser
XM_024450861.1:c.2064G>T	XP_024306629.1:p.Arg688Ser
XM_024450862.1:c.2061G>T	XP_024306630.1:p.Arg687Ser
NM_018127.7:c.2346G>T MANE Select	NP_060597.4:p.Arg782Ser
NM_001165962.2:c.2226G>T	NP_001159434.1:p.Arg742Ser
NM_173717.2:c.2343G>T	NP_776065.1:p.Arg781Ser