Canonical Allele Identifier: CA2578633190

Gene: AARS2 TMEM151B POLR1C

Linked Data

• gnomAD v4: 6-44303087-GAGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44303088_44303091del , CM000668.2:g.44303088_44303091del	GRCh38
NC_000006.11:g.44270825_44270828del , CM000668.1:g.44270825_44270828del	GRCh37
NC_000006.10:g.44378803_44378806del	NCBI36
NG_031952.1:g.15236_15239del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2230_2233del (AARS2) MANE Select	ENSP00000244571.4:p.Thr744LeufsTer16
ENST00000244571.4:c.2230_2233del (AARS2)	ENSP00000244571.4:p.Thr744LeufsTer16
ENST00000438774.2:c.577-3855_577-3852del (TMEM151B)	ENSP00000409337.2:n.577-3855_577-3852del
ENST00000505802.1:c.314-3855_314-3852del
NM_020745.3:c.2230_2233del (AARS2)	NP_065796.1:p.Thr744LeufsTer16
XM_005249245.2:c.1939_1942del (AARS2)	XP_005249302.1:p.Thr647LeufsTer16
XM_011514764.1:c.2230_2233del (AARS2)	XP_011513066.1:p.Thr744LeufsTer16
XR_241907.2:n.2181-181_2181-178del (AARS2)
XM_005249245.3:c.1939_1942del (AARS2)	XP_005249302.1:p.Thr647LeufsTer16
XM_011514764.2:c.2230_2233del (AARS2)	XP_011513066.1:p.Thr744LeufsTer16
XM_017011112.1:c.940_943del (AARS2)	XP_016866601.1:p.Thr314LeufsTer16
NM_020745.4:c.2230_2233del (AARS2) MANE Select	NP_065796.2:p.Thr744LeufsTer16
NM_001318876.2:c.946-138802_946-138799del (POLR1C)	NP_001305805.1:n.946-138802_946-138799del