Canonical Allele Identifier: CA1624924471

Gene: AARS2 TMEM151B POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44303393C= , CM000668.2:g.44303393C=	GRCh38
NC_000006.11:g.44271130C= , CM000668.1:g.44271130C=	GRCh37
NC_000006.10:g.44379108C=	NCBI36
NG_031952.1:g.14934G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2038G= (AARS2) MANE Select	ENSP00000244571.4:p.Val680=
ENST00000244571.4:c.2038G= (AARS2)	ENSP00000244571.4:p.Val680=
ENST00000438774.2:c.577-3550C= (TMEM151B)	ENSP00000409337.2:n.577-3550C=
ENST00000505802.1:c.314-3550C=
NM_020745.3:c.2038G= (AARS2)	NP_065796.1:p.Val680=
XM_005249245.2:c.1747G= (AARS2)	XP_005249302.1:p.Val583=
XM_011514764.1:c.2038G= (AARS2)	XP_011513066.1:p.Val680=
XR_241907.2:n.2073G= (AARS2)
XM_005249245.3:c.1747G= (AARS2)	XP_005249302.1:p.Val583=
XM_011514764.2:c.2038G= (AARS2)	XP_011513066.1:p.Val680=
XM_017011112.1:c.748G= (AARS2)	XP_016866601.1:p.Val250=
NM_020745.4:c.2038G= (AARS2) MANE Select	NP_065796.2:p.Val680=
NM_001318876.2:c.946-138497C= (POLR1C)	NP_001305805.1:n.946-138497C=