Canonical Allele Identifier: CA289188

Gene: AARS2 TMEM151B POLR1C

Linked Data

• ClinVar Variation Id: 136219
• ClinVar RCV Id: RCV002055382
• dbSNP Id: rs113721536
• ExAC: 6:44269781 C / A
• gnomAD v2: 6-44269781-C-A
• gnomAD v3: 6-44302044-C-A
• gnomAD v4: 6-44302044-C-A
• MyVariant Identifiers: chr6:g.44269781C>A (hg19) ; chr6:g.44302044C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302044C>A , CM000668.2:g.44302044C>A	GRCh38
NC_000006.11:g.44269781C>A , CM000668.1:g.44269781C>A	GRCh37
NC_000006.10:g.44377759C>A	NCBI36
NG_031952.1:g.16283G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.2598+16G>T (AARS2) MANE Select	ENSP00000244571.4:n.2598+16G>T
ENST00000244571.4:c.2598+16G>T (AARS2)	ENSP00000244571.4:n.2598+16G>T
ENST00000438774.2:c.577-4899C>A (TMEM151B)	ENSP00000409337.2:n.577-4899C>A
ENST00000505802.1:c.314-4899C>A
NM_020745.3:c.2598+16G>T (AARS2)	NP_065796.1:n.2598+16G>T
XM_005249245.2:c.2307+16G>T (AARS2)	XP_005249302.1:n.2307+16G>T
XM_011514764.1:c.2598+16G>T (AARS2)	XP_011513066.1:n.2598+16G>T
XR_241907.2:n.2523+16G>T (AARS2)
XM_005249245.3:c.2307+16G>T (AARS2)	XP_005249302.1:n.2307+16G>T
XM_011514764.2:c.2598+16G>T (AARS2)	XP_011513066.1:n.2598+16G>T
XM_017011112.1:c.1308+16G>T (AARS2)	XP_016866601.1:n.1308+16G>T
NM_020745.4:c.2598+16G>T (AARS2) MANE Select	NP_065796.2:n.2598+16G>T
NM_001318876.2:c.946-139846C>A (POLR1C)	NP_001305805.1:n.946-139846C>A