Canonical Allele Identifier: CA364340993
Gene: AARS2 HGNC NCBI
POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs1229841072
gnomAD v2: 6-44278846-T-A
gnomAD v3: 6-44311109-T-A
gnomAD v4: 6-44311109-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44311109T>A , CM000668.2:g.44311109T>A GRCh38
NC_000006.11:g.44278846T>A , CM000668.1:g.44278846T>A GRCh37
NC_000006.10:g.44386824T>A NCBI36
NG_031952.1:g.7218A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000244571.5:c.634A>T (AARS2) MANE Select ENSP00000244571.4:p.Met212Leu
ENST00000244571.4:c.634A>T (AARS2) ENSP00000244571.4:p.Met212Leu
ENST00000505802.1:c.855+3467T>A
NM_020745.3:c.634A>T (AARS2) NP_065796.1:p.Met212Leu
XM_005249245.2:c.634A>T (AARS2) XP_005249302.1:p.Met212Leu
XM_011514764.1:c.634A>T (AARS2) XP_011513066.1:p.Met212Leu
XR_241907.2:n.669A>T (AARS2)
XM_005249245.3:c.634A>T (AARS2) XP_005249302.1:p.Met212Leu
XM_011514764.2:c.634A>T (AARS2) XP_011513066.1:p.Met212Leu
XM_017011112.1:c.-385A>T (AARS2) XP_016866601.1:n.-385A>T
NM_020745.4:c.634A>T (AARS2) MANE Select NP_065796.2:p.Met212Leu
NM_001318876.2:c.946-130781T>A (POLR1C) NP_001305805.1:n.946-130781T>A