Canonical Allele Identifier: CA1624932117

Gene: AARS2 POLR1C

Linked Data

• dbSNP Id: rs1786543440
• gnomAD v4: 6-44313336-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44313336C>A , CM000668.2:g.44313336C>A	GRCh38
NC_000006.11:g.44281073C>A , CM000668.1:g.44281073C>A	GRCh37
NC_000006.10:g.44389051C>A	NCBI36
NG_031952.1:g.4991G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.-13G>T (AARS2) MANE Select	ENSP00000244571.4:n.-13G>T
ENST00000505802.1:c.855+5694C>A
XM_005249245.2:c.-13G>T (AARS2)	XP_005249302.1:n.-13G>T
XM_011514764.1:c.-13G>T (AARS2)	XP_011513066.1:n.-13G>T
XR_241907.2:n.23G>T (AARS2)
XM_005249245.3:c.-13G>T (AARS2)	XP_005249302.1:n.-13G>T
XM_011514764.2:c.-13G>T (AARS2)	XP_011513066.1:n.-13G>T
NM_020745.4:c.-13G>T (AARS2) MANE Select	NP_065796.2:n.-13G>T
NM_001318876.2:c.946-128554C>A (POLR1C)	NP_001305805.1:n.946-128554C>A