Canonical Allele Identifier: CA3833796

Gene: AARS2 TMEM151B POLR1C

Linked Data

• dbSNP Id: rs780673226
• ExAC: 6:44268260 T / C
• gnomAD v2: 6-44268260-T-C
• MyVariant Identifiers: chr6:g.44268260T>C (hg19) ; chr6:g.44300523T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44300523T>C , CM000668.2:g.44300523T>C	GRCh38
NC_000006.11:g.44268260T>C , CM000668.1:g.44268260T>C	GRCh37
NC_000006.10:g.44376238T>C	NCBI36
NG_031952.1:g.17804A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.*24A>G (AARS2) MANE Select	ENSP00000244571.4:n.*24A>G
ENST00000244571.4:c.*24A>G (AARS2)	ENSP00000244571.4:n.*24A>G
ENST00000438774.2:c.577-6420T>C (TMEM151B)	ENSP00000409337.2:n.577-6420T>C
ENST00000505802.1:c.314-6420T>C
NM_020745.3:c.*24A>G (AARS2)	NP_065796.1:n.*24A>G
XM_005249245.2:c.*24A>G (AARS2)	XP_005249302.1:n.*24A>G
XM_011514764.1:c.2793+633A>G (AARS2)	XP_011513066.1:n.2793+633A>G
XR_241907.2:n.2907A>G (AARS2)
XM_005249245.3:c.*24A>G (AARS2)	XP_005249302.1:n.*24A>G
XM_011514764.2:c.2793+633A>G (AARS2)	XP_011513066.1:n.2793+633A>G
XM_017011112.1:c.*24A>G (AARS2)	XP_016866601.1:n.*24A>G
NM_020745.4:c.*24A>G (AARS2) MANE Select	NP_065796.2:n.*24A>G
NM_001318876.2:c.946-141367T>C (POLR1C)	NP_001305805.1:n.946-141367T>C