Canonical Allele Identifier: CA324938

Gene: AARS2 TMEM151B POLR1C

Linked Data

• ClinVar Variation Id: 213960
• ClinVar RCV Id: RCV000200375
• dbSNP Id: rs200781477
• MyVariant Identifiers: chr6:g.44269119G>T (hg19) ; chr6:g.44301382G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44301382G>T , CM000668.2:g.44301382G>T	GRCh38
NC_000006.11:g.44269119G>T , CM000668.1:g.44269119G>T	GRCh37
NC_000006.10:g.44377097G>T	NCBI36
NG_031952.1:g.16945C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.2681C>A (AARS2) MANE Select	ENSP00000244571.4:p.Ser894Ter
ENST00000244571.4:c.2681C>A (AARS2)	ENSP00000244571.4:p.Ser894Ter
ENST00000438774.2:c.577-5561G>T (TMEM151B)	ENSP00000409337.2:n.577-5561G>T
ENST00000491573.1:n.39C>A (AARS2)
ENST00000505802.1:c.314-5561G>T
NM_020745.3:c.2681C>A (AARS2)	NP_065796.1:p.Ser894Ter
XM_005249245.2:c.2390C>A (AARS2)	XP_005249302.1:p.Ser797Ter
XM_011514764.1:c.2681C>A (AARS2)	XP_011513066.1:p.Ser894Ter
XR_241907.2:n.2606C>A (AARS2)
XM_005249245.3:c.2390C>A (AARS2)	XP_005249302.1:p.Ser797Ter
XM_011514764.2:c.2681C>A (AARS2)	XP_011513066.1:p.Ser894Ter
XM_017011112.1:c.1391C>A (AARS2)	XP_016866601.1:p.Ser464Ter
NM_020745.4:c.2681C>A (AARS2) MANE Select	NP_065796.2:p.Ser894Ter
NM_001318876.2:c.946-140508G>T (POLR1C)	NP_001305805.1:n.946-140508G>T