Canonical Allele Identifier: CA1624922661

Gene: AARS2 TMEM151B POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44301893_44301894delinsTG , CM000668.2:g.44301893_44301894delinsTG	GRCh38
NC_000006.11:g.44269630_44269631delinsTG , CM000668.1:g.44269630_44269631delinsTG	GRCh37
NC_000006.10:g.44377608_44377609delinsTG	NCBI36
NG_031952.1:g.16433_16434delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2598+166_2598+167delinsCA (AARS2) MANE Select	ENSP00000244571.4:n.2598+166_2598+167delinsCA
ENST00000244571.4:c.2598+166_2598+167delinsCA (AARS2)	ENSP00000244571.4:n.2598+166_2598+167delinsCA
ENST00000438774.2:c.577-5050_577-5049delinsTG (TMEM151B)	ENSP00000409337.2:n.577-5050_577-5049delinsTG
ENST00000505802.1:c.314-5050_314-5049delinsTG
NM_020745.3:c.2598+166_2598+167delinsCA (AARS2)	NP_065796.1:n.2598+166_2598+167delinsCA
XM_005249245.2:c.2307+166_2307+167delinsCA (AARS2)	XP_005249302.1:n.2307+166_2307+167delinsCA
XM_011514764.1:c.2598+166_2598+167delinsCA (AARS2)	XP_011513066.1:n.2598+166_2598+167delinsCA
XR_241907.2:n.2523+166_2523+167delinsCA (AARS2)
XM_005249245.3:c.2307+166_2307+167delinsCA (AARS2)	XP_005249302.1:n.2307+166_2307+167delinsCA
XM_011514764.2:c.2598+166_2598+167delinsCA (AARS2)	XP_011513066.1:n.2598+166_2598+167delinsCA
XM_017011112.1:c.1308+166_1308+167delinsCA (AARS2)	XP_016866601.1:n.1308+166_1308+167delinsCA
NM_020745.4:c.2598+166_2598+167delinsCA (AARS2) MANE Select	NP_065796.2:n.2598+166_2598+167delinsCA
NM_001318876.2:c.946-139997_946-139996delinsTG (POLR1C)	NP_001305805.1:n.946-139997_946-139996delinsTG