Canonical Allele Identifier: CA398222180

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896225C>G (hg19) ; chr17:g.12992908C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992908C>G , CM000679.2:g.12992908C>G	GRCh38
NC_000017.10:g.12896225C>G , CM000679.1:g.12896225C>G	GRCh37
NC_000017.9:g.12836950C>G	NCBI36
NG_015808.1:g.30157G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2391G>C MANE Select	ENSP00000337445.4:p.Arg797Ser
ENST00000338034.8:c.2391G>C	ENSP00000337445.4:p.Arg797Ser
ENST00000395962.6:c.2334G>C	ENSP00000379291.1:p.Arg778Ser
ENST00000426905.7:c.2271G>C	ENSP00000405223.3:p.Arg757Ser
ENST00000465825.5:n.2278G>C
ENST00000480891.5:n.2220G>C
ENST00000484122.5:n.3221G>C
ENST00000487229.6:n.1937G>C
ENST00000584650.5:c.1790G>C
NM_001165962.1:c.2271G>C	NP_001159434.1:p.Arg757Ser
NM_018127.6:c.2391G>C	NP_060597.4:p.Arg797Ser
NM_173717.1:c.2388G>C	NP_776065.1:p.Arg796Ser
XM_024450850.1:c.2550G>C	XP_024306618.1:p.Arg850Ser
XM_024450851.1:c.2472G>C	XP_024306619.1:p.Arg824Ser
XM_024450852.1:c.2469G>C	XP_024306620.1:p.Arg823Ser
XM_024450853.1:c.2466G>C	XP_024306621.1:p.Arg822Ser
XM_024450854.1:c.2430G>C	XP_024306622.1:p.Arg810Ser
XM_024450855.1:c.2349G>C	XP_024306623.1:p.Arg783Ser
XM_024450856.1:c.2268G>C	XP_024306624.1:p.Arg756Ser
XM_024450857.1:c.2268G>C	XP_024306625.1:p.Arg756Ser
XM_024450858.1:c.2187G>C	XP_024306626.1:p.Arg729Ser
XM_024450859.1:c.2184G>C	XP_024306627.1:p.Arg728Ser
XM_024450860.1:c.2109G>C	XP_024306628.1:p.Arg703Ser
XM_024450861.1:c.2109G>C	XP_024306629.1:p.Arg703Ser
XM_024450862.1:c.2106G>C	XP_024306630.1:p.Arg702Ser
NM_018127.7:c.2391G>C MANE Select	NP_060597.4:p.Arg797Ser
NM_001165962.2:c.2271G>C	NP_001159434.1:p.Arg757Ser
NM_173717.2:c.2388G>C	NP_776065.1:p.Arg796Ser