Canonical Allele Identifier: CA1624931554

Gene: AARS2 POLR1C

Linked Data

• dbSNP Id: rs167772
• gnomAD v4: 6-44313075-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44313075C>G , CM000668.2:g.44313075C>G	GRCh38
NC_000006.11:g.44280812C>G , CM000668.1:g.44280812C>G	GRCh37
NC_000006.10:g.44388790C>G	NCBI36
NG_031952.1:g.5252G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.243+6G>C (AARS2) MANE Select	ENSP00000244571.4:n.243+6G>C
ENST00000244571.4:c.243+6G>C (AARS2)	ENSP00000244571.4:n.243+6G>C
ENST00000505802.1:c.855+5433C>G
NM_020745.3:c.243+6G>C (AARS2)	NP_065796.1:n.243+6G>C
XM_005249245.2:c.243+6G>C (AARS2)	XP_005249302.1:n.243+6G>C
XM_011514764.1:c.243+6G>C (AARS2)	XP_011513066.1:n.243+6G>C
XR_241907.2:n.278+6G>C (AARS2)
XM_005249245.3:c.243+6G>C (AARS2)	XP_005249302.1:n.243+6G>C
XM_011514764.2:c.243+6G>C (AARS2)	XP_011513066.1:n.243+6G>C
XM_017011112.1:c.-776+6G>C (AARS2)	XP_016866601.1:n.-776+6G>C
NM_020745.4:c.243+6G>C (AARS2) MANE Select	NP_065796.2:n.243+6G>C
NM_001318876.2:c.946-128815C>G (POLR1C)	NP_001305805.1:n.946-128815C>G