Canonical Allele Identifier: CA2678953178

Gene: AARS2 TMEM151B POLR1C

Linked Data

• gnomAD v4: 6-44302663-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302663_44302664insT , CM000668.2:g.44302663_44302664insT	GRCh38
NC_000006.11:g.44270400_44270401insT , CM000668.1:g.44270400_44270401insT	GRCh37
NC_000006.10:g.44378378_44378379insT	NCBI36
NG_031952.1:g.15663_15664insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2364+138_2364+139insA (AARS2) MANE Select	ENSP00000244571.4:n.2364+138_2364+139insA
ENST00000244571.4:c.2364+138_2364+139insA (AARS2)	ENSP00000244571.4:n.2364+138_2364+139insA
ENST00000438774.2:c.577-4280_577-4279insT (TMEM151B)	ENSP00000409337.2:n.577-4280_577-4279insT
ENST00000505802.1:c.314-4280_314-4279insT
NM_020745.3:c.2364+138_2364+139insA (AARS2)	NP_065796.1:n.2364+138_2364+139insA
XM_005249245.2:c.2073+138_2073+139insA (AARS2)	XP_005249302.1:n.2073+138_2073+139insA
XM_011514764.1:c.2364+138_2364+139insA (AARS2)	XP_011513066.1:n.2364+138_2364+139insA
XR_241907.2:n.2289+138_2289+139insA (AARS2)
XM_005249245.3:c.2073+138_2073+139insA (AARS2)	XP_005249302.1:n.2073+138_2073+139insA
XM_011514764.2:c.2364+138_2364+139insA (AARS2)	XP_011513066.1:n.2364+138_2364+139insA
XM_017011112.1:c.1074+138_1074+139insA (AARS2)	XP_016866601.1:n.1074+138_1074+139insA
NM_020745.4:c.2364+138_2364+139insA (AARS2) MANE Select	NP_065796.2:n.2364+138_2364+139insA
NM_001318876.2:c.946-139227_946-139226insT (POLR1C)	NP_001305805.1:n.946-139227_946-139226insT