Canonical Allele Identifier: CA498009565

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896162T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992845T>G , CM000679.2:g.12992845T>G	GRCh38
NC_000017.10:g.12896162T>G , CM000679.1:g.12896162T>G	GRCh37
NC_000017.9:g.12836887T>G	NCBI36
NG_015808.1:g.30220A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2454A>C MANE Select	ENSP00000337445.4:p.Pro818=
ENST00000338034.8:c.2454A>C	ENSP00000337445.4:p.Pro818=
ENST00000395962.6:c.2397A>C	ENSP00000379291.1:p.Pro799=
ENST00000426905.7:c.2334A>C	ENSP00000405223.3:p.Pro778=
ENST00000465825.5:n.2341A>C
ENST00000480891.5:n.2283A>C
ENST00000484122.5:n.3284A>C
ENST00000487229.6:n.2000A>C
ENST00000584650.5:c.1853A>C
NM_001165962.1:c.2334A>C	NP_001159434.1:p.Pro778=
NM_018127.6:c.2454A>C	NP_060597.4:p.Pro818=
NM_173717.1:c.2451A>C	NP_776065.1:p.Pro817=
XM_024450850.1:c.2613A>C	XP_024306618.1:p.Pro871=
XM_024450851.1:c.2535A>C	XP_024306619.1:p.Pro845=
XM_024450852.1:c.2532A>C	XP_024306620.1:p.Pro844=
XM_024450853.1:c.2529A>C	XP_024306621.1:p.Pro843=
XM_024450854.1:c.2493A>C	XP_024306622.1:p.Pro831=
XM_024450855.1:c.2412A>C	XP_024306623.1:p.Pro804=
XM_024450856.1:c.2331A>C	XP_024306624.1:p.Pro777=
XM_024450857.1:c.2331A>C	XP_024306625.1:p.Pro777=
XM_024450858.1:c.2250A>C	XP_024306626.1:p.Pro750=
XM_024450859.1:c.2247A>C	XP_024306627.1:p.Pro749=
XM_024450860.1:c.2172A>C	XP_024306628.1:p.Pro724=
XM_024450861.1:c.2172A>C	XP_024306629.1:p.Pro724=
XM_024450862.1:c.2169A>C	XP_024306630.1:p.Pro723=
NM_018127.7:c.2454A>C MANE Select	NP_060597.4:p.Pro818=
NM_001165962.2:c.2334A>C	NP_001159434.1:p.Pro778=
NM_173717.2:c.2451A>C	NP_776065.1:p.Pro817=