Canonical Allele Identifier: CA398222432

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12993036-C-A
• MyVariant Identifiers: chr17:g.12896353C>A (hg19) ; chr17:g.12993036C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993036C>A , CM000679.2:g.12993036C>A	GRCh38
NC_000017.10:g.12896353C>A , CM000679.1:g.12896353C>A	GRCh37
NC_000017.9:g.12837078C>A	NCBI36
NG_015808.1:g.30029G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2263G>T MANE Select	ENSP00000337445.4:p.Gly755Ter
ENST00000338034.8:c.2263G>T	ENSP00000337445.4:p.Gly755Ter
ENST00000395962.6:c.2206G>T	ENSP00000379291.1:p.Gly736Ter
ENST00000426905.7:c.2143G>T	ENSP00000405223.3:p.Gly715Ter
ENST00000465825.5:n.2150G>T
ENST00000480891.5:n.2092G>T
ENST00000484122.5:n.3093G>T
ENST00000487229.6:n.1809G>T
ENST00000584650.5:c.1662G>T
NM_001165962.1:c.2143G>T	NP_001159434.1:p.Gly715Ter
NM_018127.6:c.2263G>T	NP_060597.4:p.Gly755Ter
NM_173717.1:c.2260G>T	NP_776065.1:p.Gly754Ter
XM_024450850.1:c.2422G>T	XP_024306618.1:p.Gly808Ter
XM_024450851.1:c.2344G>T	XP_024306619.1:p.Gly782Ter
XM_024450852.1:c.2341G>T	XP_024306620.1:p.Gly781Ter
XM_024450853.1:c.2338G>T	XP_024306621.1:p.Gly780Ter
XM_024450854.1:c.2302G>T	XP_024306622.1:p.Gly768Ter
XM_024450855.1:c.2221G>T	XP_024306623.1:p.Gly741Ter
XM_024450856.1:c.2140G>T	XP_024306624.1:p.Gly714Ter
XM_024450857.1:c.2140G>T	XP_024306625.1:p.Gly714Ter
XM_024450858.1:c.2059G>T	XP_024306626.1:p.Gly687Ter
XM_024450859.1:c.2056G>T	XP_024306627.1:p.Gly686Ter
XM_024450860.1:c.1981G>T	XP_024306628.1:p.Gly661Ter
XM_024450861.1:c.1981G>T	XP_024306629.1:p.Gly661Ter
XM_024450862.1:c.1978G>T	XP_024306630.1:p.Gly660Ter
NM_018127.7:c.2263G>T MANE Select	NP_060597.4:p.Gly755Ter
NM_001165962.2:c.2143G>T	NP_001159434.1:p.Gly715Ter
NM_173717.2:c.2260G>T	NP_776065.1:p.Gly754Ter