Canonical Allele Identifier: CA364335525

Gene: AARS2 TMEM151B POLR1C

Linked Data

• gnomAD v4: 6-44300617-C-T
• MyVariant Identifiers: chr6:g.44268354C>T (hg19) ; chr6:g.44300617C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44300617C>T , CM000668.2:g.44300617C>T	GRCh38
NC_000006.11:g.44268354C>T , CM000668.1:g.44268354C>T	GRCh37
NC_000006.10:g.44376332C>T	NCBI36
NG_031952.1:g.17710G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.2888G>A (AARS2) MANE Select	ENSP00000244571.4:p.Gly963Asp
ENST00000244571.4:c.2888G>A (AARS2)	ENSP00000244571.4:p.Gly963Asp
ENST00000438774.2:c.577-6326C>T (TMEM151B)	ENSP00000409337.2:n.577-6326C>T
ENST00000491573.1:n.690G>A (AARS2)
ENST00000505802.1:c.314-6326C>T
NM_020745.3:c.2888G>A (AARS2)	NP_065796.1:p.Gly963Asp
XM_005249245.2:c.2597G>A (AARS2)	XP_005249302.1:p.Gly866Asp
XM_011514764.1:c.2793+539G>A (AARS2)	XP_011513066.1:n.2793+539G>A
XR_241907.2:n.2813G>A (AARS2)
XM_005249245.3:c.2597G>A (AARS2)	XP_005249302.1:p.Gly866Asp
XM_011514764.2:c.2793+539G>A (AARS2)	XP_011513066.1:n.2793+539G>A
XM_017011112.1:c.1598G>A (AARS2)	XP_016866601.1:p.Gly533Asp
NM_020745.4:c.2888G>A (AARS2) MANE Select	NP_065796.2:p.Gly963Asp
NM_001318876.2:c.946-141273C>T (POLR1C)	NP_001305805.1:n.946-141273C>T