Canonical Allele Identifier: CA3833948

Gene: AARS2 TMEM151B POLR1C

Linked Data

• dbSNP Id: rs746491482
• ExAC: 6:44269918 AAGC / A
• MyVariant Identifiers: chr6:g.44269919_44269921del (hg19) ; chr6:g.44302182_44302184del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302184_44302186del , CM000668.2:g.44302184_44302186del	GRCh38
NC_000006.11:g.44269921_44269923del , CM000668.1:g.44269921_44269923del	GRCh37
NC_000006.10:g.44377899_44377901del	NCBI36
NG_031952.1:g.16143_16145del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2488-14_2488-12del (AARS2) MANE Select	ENSP00000244571.4:n.2488-14_2488-12del
ENST00000244571.4:c.2488-14_2488-12del (AARS2)	ENSP00000244571.4:n.2488-14_2488-12del
ENST00000438774.2:c.577-4759_577-4757del (TMEM151B)	ENSP00000409337.2:n.577-4759_577-4757del
ENST00000505802.1:c.314-4759_314-4757del
NM_020745.3:c.2488-14_2488-12del (AARS2)	NP_065796.1:n.2488-14_2488-12del
XM_005249245.2:c.2197-14_2197-12del (AARS2)	XP_005249302.1:n.2197-14_2197-12del
XM_011514764.1:c.2488-14_2488-12del (AARS2)	XP_011513066.1:n.2488-14_2488-12del
XR_241907.2:n.2413-14_2413-12del (AARS2)
XM_005249245.3:c.2197-14_2197-12del (AARS2)	XP_005249302.1:n.2197-14_2197-12del
XM_011514764.2:c.2488-14_2488-12del (AARS2)	XP_011513066.1:n.2488-14_2488-12del
XM_017011112.1:c.1198-14_1198-12del (AARS2)	XP_016866601.1:n.1198-14_1198-12del
NM_020745.4:c.2488-14_2488-12del (AARS2) MANE Select	NP_065796.2:n.2488-14_2488-12del
NM_001318876.2:c.946-139706_946-139704del (POLR1C)	NP_001305805.1:n.946-139706_946-139704del