Canonical Allele Identifier: CA2678953263
Gene: AARS2 HGNC NCBI
TMEM151B HGNC NCBI
POLR1C HGNC NCBI

Linked Data

gnomAD v4: 6-44302955-AGAAG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44302957_44302960del , CM000668.2:g.44302957_44302960del GRCh38
NC_000006.11:g.44270694_44270697del , CM000668.1:g.44270694_44270697del GRCh37
NC_000006.10:g.44378672_44378675del NCBI36
NG_031952.1:g.15368_15371del

Transcript Alleles

HGVS Amino-acid change
ENST00000244571.5:c.2256-49_2256-46del (AARS2) MANE Select ENSP00000244571.4:n.2256-49_2256-46del
ENST00000244571.4:c.2256-49_2256-46del (AARS2) ENSP00000244571.4:n.2256-49_2256-46del
ENST00000438774.2:c.577-3986_577-3983del (TMEM151B) ENSP00000409337.2:n.577-3986_577-3983del
ENST00000505802.1:c.314-3986_314-3983del
NM_020745.3:c.2256-49_2256-46del (AARS2) NP_065796.1:n.2256-49_2256-46del
XM_005249245.2:c.1965-49_1965-46del (AARS2) XP_005249302.1:n.1965-49_1965-46del
XM_011514764.1:c.2256-49_2256-46del (AARS2) XP_011513066.1:n.2256-49_2256-46del
XR_241907.2:n.2181-49_2181-46del (AARS2)
XM_005249245.3:c.1965-49_1965-46del (AARS2) XP_005249302.1:n.1965-49_1965-46del
XM_011514764.2:c.2256-49_2256-46del (AARS2) XP_011513066.1:n.2256-49_2256-46del
XM_017011112.1:c.966-49_966-46del (AARS2) XP_016866601.1:n.966-49_966-46del
NM_020745.4:c.2256-49_2256-46del (AARS2) MANE Select NP_065796.2:n.2256-49_2256-46del
NM_001318876.2:c.946-138933_946-138930del (POLR1C) NP_001305805.1:n.946-138933_946-138930del...
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