Canonical Allele Identifier: CA398222397

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896336C>G (hg19) ; chr17:g.12993019C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993019C>G , CM000679.2:g.12993019C>G	GRCh38
NC_000017.10:g.12896336C>G , CM000679.1:g.12896336C>G	GRCh37
NC_000017.9:g.12837061C>G	NCBI36
NG_015808.1:g.30046G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2280G>C MANE Select	ENSP00000337445.4:p.Met760Ile
ENST00000338034.8:c.2280G>C	ENSP00000337445.4:p.Met760Ile
ENST00000395962.6:c.2223G>C	ENSP00000379291.1:p.Met741Ile
ENST00000426905.7:c.2160G>C	ENSP00000405223.3:p.Met720Ile
ENST00000465825.5:n.2167G>C
ENST00000480891.5:n.2109G>C
ENST00000484122.5:n.3110G>C
ENST00000487229.6:n.1826G>C
ENST00000584650.5:c.1679G>C
NM_001165962.1:c.2160G>C	NP_001159434.1:p.Met720Ile
NM_018127.6:c.2280G>C	NP_060597.4:p.Met760Ile
NM_173717.1:c.2277G>C	NP_776065.1:p.Met759Ile
XM_024450850.1:c.2439G>C	XP_024306618.1:p.Met813Ile
XM_024450851.1:c.2361G>C	XP_024306619.1:p.Met787Ile
XM_024450852.1:c.2358G>C	XP_024306620.1:p.Met786Ile
XM_024450853.1:c.2355G>C	XP_024306621.1:p.Met785Ile
XM_024450854.1:c.2319G>C	XP_024306622.1:p.Met773Ile
XM_024450855.1:c.2238G>C	XP_024306623.1:p.Met746Ile
XM_024450856.1:c.2157G>C	XP_024306624.1:p.Met719Ile
XM_024450857.1:c.2157G>C	XP_024306625.1:p.Met719Ile
XM_024450858.1:c.2076G>C	XP_024306626.1:p.Met692Ile
XM_024450859.1:c.2073G>C	XP_024306627.1:p.Met691Ile
XM_024450860.1:c.1998G>C	XP_024306628.1:p.Met666Ile
XM_024450861.1:c.1998G>C	XP_024306629.1:p.Met666Ile
XM_024450862.1:c.1995G>C	XP_024306630.1:p.Met665Ile
NM_018127.7:c.2280G>C MANE Select	NP_060597.4:p.Met760Ile
NM_001165962.2:c.2160G>C	NP_001159434.1:p.Met720Ile
NM_173717.2:c.2277G>C	NP_776065.1:p.Met759Ile