Canonical Allele Identifier: CA364340989

Gene: AARS2 POLR1C

Linked Data

• dbSNP Id: rs1159487395
• gnomAD v2: 6-44278844-C-T
• gnomAD v4: 6-44311107-C-T
• MyVariant Identifiers: chr6:g.44278844C>T (hg19) ; chr6:g.44311107C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311107C>T , CM000668.2:g.44311107C>T	GRCh38
NC_000006.11:g.44278844C>T , CM000668.1:g.44278844C>T	GRCh37
NC_000006.10:g.44386822C>T	NCBI36
NG_031952.1:g.7220G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.636G>A (AARS2) MANE Select	ENSP00000244571.4:p.Met212Ile
ENST00000244571.4:c.636G>A (AARS2)	ENSP00000244571.4:p.Met212Ile
ENST00000505802.1:c.855+3465C>T
NM_020745.3:c.636G>A (AARS2)	NP_065796.1:p.Met212Ile
XM_005249245.2:c.636G>A (AARS2)	XP_005249302.1:p.Met212Ile
XM_011514764.1:c.636G>A (AARS2)	XP_011513066.1:p.Met212Ile
XR_241907.2:n.671G>A (AARS2)
XM_005249245.3:c.636G>A (AARS2)	XP_005249302.1:p.Met212Ile
XM_011514764.2:c.636G>A (AARS2)	XP_011513066.1:p.Met212Ile
XM_017011112.1:c.-383G>A (AARS2)	XP_016866601.1:n.-383G>A
NM_020745.4:c.636G>A (AARS2) MANE Select	NP_065796.2:p.Met212Ile
NM_001318876.2:c.946-130783C>T (POLR1C)	NP_001305805.1:n.946-130783C>T