Canonical Allele Identifier: CA138386132

Gene: AARS2 TMEM151B POLR1C

Linked Data

• dbSNP Id: rs971680475
• gnomAD v4: 6-44303379-C-T
• MyVariant Identifiers: chr6:g.44271116C>T (hg19) ; chr6:g.44303379C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44303379C>T , CM000668.2:g.44303379C>T	GRCh38
NC_000006.11:g.44271116C>T , CM000668.1:g.44271116C>T	GRCh37
NC_000006.10:g.44379094C>T	NCBI36
NG_031952.1:g.14948G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2052G>A (AARS2) MANE Select	ENSP00000244571.4:p.Val684=
ENST00000244571.4:c.2052G>A (AARS2)	ENSP00000244571.4:p.Val684=
ENST00000438774.2:c.577-3564C>T (TMEM151B)	ENSP00000409337.2:n.577-3564C>T
ENST00000505802.1:c.314-3564C>T
NM_020745.3:c.2052G>A (AARS2)	NP_065796.1:p.Val684=
XM_005249245.2:c.1761G>A (AARS2)	XP_005249302.1:p.Val587=
XM_011514764.1:c.2052G>A (AARS2)	XP_011513066.1:p.Val684=
XR_241907.2:n.2087G>A (AARS2)
XM_005249245.3:c.1761G>A (AARS2)	XP_005249302.1:p.Val587=
XM_011514764.2:c.2052G>A (AARS2)	XP_011513066.1:p.Val684=
XM_017011112.1:c.762G>A (AARS2)	XP_016866601.1:p.Val254=
NM_020745.4:c.2052G>A (AARS2) MANE Select	NP_065796.2:p.Val684=
NM_001318876.2:c.946-138511C>T (POLR1C)	NP_001305805.1:n.946-138511C>T