Canonical Allele Identifier: CA2678952276
Gene: AARS2 HGNC NCBI
TMEM151B HGNC NCBI
POLR1C HGNC NCBI

Linked Data

gnomAD v4: 6-44300522-A-AT
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44300523dup , CM000668.2:g.44300523dup GRCh38
NC_000006.11:g.44268260dup , CM000668.1:g.44268260dup GRCh37
NC_000006.10:g.44376238dup NCBI36
NG_031952.1:g.17804dup

Transcript Alleles

HGVS Amino-acid change
ENST00000244571.5:c.*24dup (AARS2) MANE Select ENSP00000244571.4:n.*24dup
ENST00000244571.4:c.*24dup (AARS2) ENSP00000244571.4:n.*24dup
ENST00000438774.2:c.577-6420dup (TMEM151B) ENSP00000409337.2:n.577-6420dup
ENST00000505802.1:c.314-6420dup
NM_020745.3:c.*24dup (AARS2) NP_065796.1:n.*24dup
XM_005249245.2:c.*24dup (AARS2) XP_005249302.1:n.*24dup
XM_011514764.1:c.2793+633dup (AARS2) XP_011513066.1:n.2793+633dup
XR_241907.2:n.2907dup (AARS2)
XM_005249245.3:c.*24dup (AARS2) XP_005249302.1:n.*24dup
XM_011514764.2:c.2793+633dup (AARS2) XP_011513066.1:n.2793+633dup
XM_017011112.1:c.*24dup (AARS2) XP_016866601.1:n.*24dup
NM_020745.4:c.*24dup (AARS2) MANE Select NP_065796.2:n.*24dup
NM_001318876.2:c.946-141367dup (POLR1C) NP_001305805.1:n.946-141367dup
Search 100 bp 5'
Search 100 bp 3'