Canonical Allele Identifier: CA625311417

Gene: ELAC2

Linked Data

• dbSNP Id: rs1461333227
• gnomAD v2: 17-12896378-G-C
• gnomAD v4: 17-12993061-G-C
• MyVariant Identifiers: chr17:g.12896378G>C (hg19) ; chr17:g.12993061G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993061G>C , CM000679.2:g.12993061G>C	GRCh38
NC_000017.10:g.12896378G>C , CM000679.1:g.12896378G>C	GRCh37
NC_000017.9:g.12837103G>C	NCBI36
NG_015808.1:g.30004C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2254-16C>G MANE Select	ENSP00000337445.4:n.2254-16C>G
ENST00000338034.8:c.2254-16C>G	ENSP00000337445.4:n.2254-16C>G
ENST00000395962.6:c.2197-16C>G	ENSP00000379291.1:n.2197-16C>G
ENST00000426905.7:c.2134-16C>G	ENSP00000405223.3:n.2134-16C>G
ENST00000465825.5:n.2141-16C>G
ENST00000480891.5:n.2083-16C>G
ENST00000484122.5:n.3084-16C>G
ENST00000487229.6:n.1800-16C>G
ENST00000584650.5:c.1653-16C>G
NM_001165962.1:c.2134-16C>G	NP_001159434.1:n.2134-16C>G
NM_018127.6:c.2254-16C>G	NP_060597.4:n.2254-16C>G
NM_173717.1:c.2251-16C>G	NP_776065.1:n.2251-16C>G
XM_024450850.1:c.2413-16C>G	XP_024306618.1:n.2413-16C>G
XM_024450851.1:c.2335-16C>G	XP_024306619.1:n.2335-16C>G
XM_024450852.1:c.2332-16C>G	XP_024306620.1:n.2332-16C>G
XM_024450853.1:c.2329-16C>G	XP_024306621.1:n.2329-16C>G
XM_024450854.1:c.2293-16C>G	XP_024306622.1:n.2293-16C>G
XM_024450855.1:c.2212-16C>G	XP_024306623.1:n.2212-16C>G
XM_024450856.1:c.2131-16C>G	XP_024306624.1:n.2131-16C>G
XM_024450857.1:c.2131-16C>G	XP_024306625.1:n.2131-16C>G
XM_024450858.1:c.2050-16C>G	XP_024306626.1:n.2050-16C>G
XM_024450859.1:c.2047-16C>G	XP_024306627.1:n.2047-16C>G
XM_024450860.1:c.1972-16C>G	XP_024306628.1:n.1972-16C>G
XM_024450861.1:c.1972-16C>G	XP_024306629.1:n.1972-16C>G
XM_024450862.1:c.1969-16C>G	XP_024306630.1:n.1969-16C>G
NM_018127.7:c.2254-16C>G MANE Select	NP_060597.4:n.2254-16C>G
NM_001165962.2:c.2134-16C>G	NP_001159434.1:n.2134-16C>G
NM_173717.2:c.2251-16C>G	NP_776065.1:n.2251-16C>G