Canonical Allele Identifier: CA2578633237

Gene: AARS2 TMEM151B POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44303351_44303352del , CM000668.2:g.44303351_44303352del	GRCh38
NC_000006.11:g.44271088_44271089del , CM000668.1:g.44271088_44271089del	GRCh37
NC_000006.10:g.44379066_44379067del	NCBI36
NG_031952.1:g.14978_14979del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2082_2083del (AARS2) MANE Select	ENSP00000244571.4:p.Tyr695HisfsTer20
ENST00000244571.4:c.2082_2083del (AARS2)	ENSP00000244571.4:p.Tyr695HisfsTer20
ENST00000438774.2:c.577-3592_577-3591del (TMEM151B)	ENSP00000409337.2:n.577-3592_577-3591del
ENST00000505802.1:c.314-3592_314-3591del
NM_020745.3:c.2082_2083del (AARS2)	NP_065796.1:p.Tyr695HisfsTer20
XM_005249245.2:c.1791_1792del (AARS2)	XP_005249302.1:p.Tyr598HisfsTer20
XM_011514764.1:c.2082_2083del (AARS2)	XP_011513066.1:p.Tyr695HisfsTer20
XR_241907.2:n.2117_2118del (AARS2)
XM_005249245.3:c.1791_1792del (AARS2)	XP_005249302.1:p.Tyr598HisfsTer20
XM_011514764.2:c.2082_2083del (AARS2)	XP_011513066.1:p.Tyr695HisfsTer20
XM_017011112.1:c.792_793del (AARS2)	XP_016866601.1:p.Tyr265HisfsTer20
NM_020745.4:c.2082_2083del (AARS2) MANE Select	NP_065796.2:p.Tyr695HisfsTer20
NM_001318876.2:c.946-138539_946-138538del (POLR1C)	NP_001305805.1:n.946-138539_946-138538del