Canonical Allele Identifier: CA1624924436

Gene: AARS2 TMEM151B POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44303378_44303380delinsGCA , CM000668.2:g.44303378_44303380delinsGCA	GRCh38
NC_000006.11:g.44271115_44271117delinsGCA , CM000668.1:g.44271115_44271117delinsGCA	GRCh37
NC_000006.10:g.44379093_44379095delinsGCA	NCBI36
NG_031952.1:g.14947_14949delinsTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2051_2053delinsTGC (AARS2) MANE Select	ENSP00000244571.4:p.Val684=
ENST00000244571.4:c.2051_2053delinsTGC (AARS2)	ENSP00000244571.4:p.Val684=
ENST00000438774.2:c.577-3565_577-3563delinsGCA (TMEM151B)	ENSP00000409337.2:n.577-3565_577-3563delinsGCA
ENST00000505802.1:c.314-3565_314-3563delinsGCA
NM_020745.3:c.2051_2053delinsTGC (AARS2)	NP_065796.1:p.Val684=
XM_005249245.2:c.1760_1762delinsTGC (AARS2)	XP_005249302.1:p.Val587=
XM_011514764.1:c.2051_2053delinsTGC (AARS2)	XP_011513066.1:p.Val684=
XR_241907.2:n.2086_2088delinsTGC (AARS2)
XM_005249245.3:c.1760_1762delinsTGC (AARS2)	XP_005249302.1:p.Val587=
XM_011514764.2:c.2051_2053delinsTGC (AARS2)	XP_011513066.1:p.Val684=
XM_017011112.1:c.761_763delinsTGC (AARS2)	XP_016866601.1:p.Val254=
NM_020745.4:c.2051_2053delinsTGC (AARS2) MANE Select	NP_065796.2:p.Val684=
NM_001318876.2:c.946-138512_946-138510delinsGCA (POLR1C)	NP_001305805.1:n.946-138512_946-138510delinsGCA