Canonical Allele Identifier: CA3833930

Gene: AARS2 TMEM151B POLR1C

Linked Data

• dbSNP Id: rs765565206
• ExAC: 6:44269812 C / T
• gnomAD v2: 6-44269812-C-T
• gnomAD v3: 6-44302075-C-T
• gnomAD v4: 6-44302075-C-T
• MyVariant Identifiers: chr6:g.44269812C>T (hg19) ; chr6:g.44302075C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302075C>T , CM000668.2:g.44302075C>T	GRCh38
NC_000006.11:g.44269812C>T , CM000668.1:g.44269812C>T	GRCh37
NC_000006.10:g.44377790C>T	NCBI36
NG_031952.1:g.16252G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.2583G>A (AARS2) MANE Select	ENSP00000244571.4:p.Lys861=
ENST00000244571.4:c.2583G>A (AARS2)	ENSP00000244571.4:p.Lys861=
ENST00000438774.2:c.577-4868C>T (TMEM151B)	ENSP00000409337.2:n.577-4868C>T
ENST00000505802.1:c.314-4868C>T
NM_020745.3:c.2583G>A (AARS2)	NP_065796.1:p.Lys861=
XM_005249245.2:c.2292G>A (AARS2)	XP_005249302.1:p.Lys764=
XM_011514764.1:c.2583G>A (AARS2)	XP_011513066.1:p.Lys861=
XR_241907.2:n.2508G>A (AARS2)
XM_005249245.3:c.2292G>A (AARS2)	XP_005249302.1:p.Lys764=
XM_011514764.2:c.2583G>A (AARS2)	XP_011513066.1:p.Lys861=
XM_017011112.1:c.1293G>A (AARS2)	XP_016866601.1:p.Lys431=
NM_020745.4:c.2583G>A (AARS2) MANE Select	NP_065796.2:p.Lys861=
NM_001318876.2:c.946-139815C>T (POLR1C)	NP_001305805.1:n.946-139815C>T