Canonical Allele Identifier: CA3834770

Gene: AARS2 POLR1C

Linked Data

• dbSNP Id: rs749647911
• ExAC: 6:44281065 G / A
• gnomAD v2: 6-44281065-G-A
• gnomAD v4: 6-44313328-G-A
• MyVariant Identifiers: chr6:g.44281065G>A (hg19) ; chr6:g.44313328G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44313328G>A , CM000668.2:g.44313328G>A	GRCh38
NC_000006.11:g.44281065G>A , CM000668.1:g.44281065G>A	GRCh37
NC_000006.10:g.44389043G>A	NCBI36
NG_031952.1:g.4999C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.-5C>T (AARS2) MANE Select	ENSP00000244571.4:n.-5C>T
ENST00000505802.1:c.855+5686G>A
XM_005249245.2:c.-5C>T (AARS2)	XP_005249302.1:n.-5C>T
XM_011514764.1:c.-5C>T (AARS2)	XP_011513066.1:n.-5C>T
XR_241907.2:n.31C>T (AARS2)
XM_005249245.3:c.-5C>T (AARS2)	XP_005249302.1:n.-5C>T
XM_011514764.2:c.-5C>T (AARS2)	XP_011513066.1:n.-5C>T
NM_020745.4:c.-5C>T (AARS2) MANE Select	NP_065796.2:n.-5C>T
NM_001318876.2:c.946-128562G>A (POLR1C)	NP_001305805.1:n.946-128562G>A