Canonical Allele Identifier: CA3834602

Gene: AARS2 POLR1C

Linked Data

• dbSNP Id: rs374712246
• ExAC: 6:44278934 C / T
• gnomAD v2: 6-44278934-C-T
• gnomAD v3: 6-44311197-C-T
• gnomAD v4: 6-44311197-C-T
• MyVariant Identifiers: chr6:g.44278934C>T (hg19) ; chr6:g.44311197C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311197C>T , CM000668.2:g.44311197C>T	GRCh38
NC_000006.11:g.44278934C>T , CM000668.1:g.44278934C>T	GRCh37
NC_000006.10:g.44386912C>T	NCBI36
NG_031952.1:g.7130G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.582-36G>A (AARS2) MANE Select	ENSP00000244571.4:n.582-36G>A
ENST00000244571.4:c.582-36G>A (AARS2)	ENSP00000244571.4:n.582-36G>A
ENST00000505802.1:c.855+3555C>T
NM_020745.3:c.582-36G>A (AARS2)	NP_065796.1:n.582-36G>A
XM_005249245.2:c.582-36G>A (AARS2)	XP_005249302.1:n.582-36G>A
XM_011514764.1:c.582-36G>A (AARS2)	XP_011513066.1:n.582-36G>A
XR_241907.2:n.617-36G>A (AARS2)
XM_005249245.3:c.582-36G>A (AARS2)	XP_005249302.1:n.582-36G>A
XM_011514764.2:c.582-36G>A (AARS2)	XP_011513066.1:n.582-36G>A
XM_017011112.1:c.-437-36G>A (AARS2)	XP_016866601.1:n.-437-36G>A
NM_020745.4:c.582-36G>A (AARS2) MANE Select	NP_065796.2:n.582-36G>A
NM_001318876.2:c.946-130693C>T (POLR1C)	NP_001305805.1:n.946-130693C>T