Canonical Allele Identifier: CA498009717

Gene: ELAC2

Linked Data

• dbSNP Id: rs1598189763
• gnomAD v4: 17-12993028-A-G
• MyVariant Identifiers: chr17:g.12896345A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993028A>G , CM000679.2:g.12993028A>G	GRCh38
NC_000017.10:g.12896345A>G , CM000679.1:g.12896345A>G	GRCh37
NC_000017.9:g.12837070A>G	NCBI36
NG_015808.1:g.30037T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2271T>C MANE Select	ENSP00000337445.4:p.Phe757=
ENST00000338034.8:c.2271T>C	ENSP00000337445.4:p.Phe757=
ENST00000395962.6:c.2214T>C	ENSP00000379291.1:p.Phe738=
ENST00000426905.7:c.2151T>C	ENSP00000405223.3:p.Phe717=
ENST00000465825.5:n.2158T>C
ENST00000480891.5:n.2100T>C
ENST00000484122.5:n.3101T>C
ENST00000487229.6:n.1817T>C
ENST00000584650.5:c.1670T>C
NM_001165962.1:c.2151T>C	NP_001159434.1:p.Phe717=
NM_018127.6:c.2271T>C	NP_060597.4:p.Phe757=
NM_173717.1:c.2268T>C	NP_776065.1:p.Phe756=
XM_024450850.1:c.2430T>C	XP_024306618.1:p.Phe810=
XM_024450851.1:c.2352T>C	XP_024306619.1:p.Phe784=
XM_024450852.1:c.2349T>C	XP_024306620.1:p.Phe783=
XM_024450853.1:c.2346T>C	XP_024306621.1:p.Phe782=
XM_024450854.1:c.2310T>C	XP_024306622.1:p.Phe770=
XM_024450855.1:c.2229T>C	XP_024306623.1:p.Phe743=
XM_024450856.1:c.2148T>C	XP_024306624.1:p.Phe716=
XM_024450857.1:c.2148T>C	XP_024306625.1:p.Phe716=
XM_024450858.1:c.2067T>C	XP_024306626.1:p.Phe689=
XM_024450859.1:c.2064T>C	XP_024306627.1:p.Phe688=
XM_024450860.1:c.1989T>C	XP_024306628.1:p.Phe663=
XM_024450861.1:c.1989T>C	XP_024306629.1:p.Phe663=
XM_024450862.1:c.1986T>C	XP_024306630.1:p.Phe662=
NM_018127.7:c.2271T>C MANE Select	NP_060597.4:p.Phe757=
NM_001165962.2:c.2151T>C	NP_001159434.1:p.Phe717=
NM_173717.2:c.2268T>C	NP_776065.1:p.Phe756=