Canonical Allele Identifier: CA2711470931
Gene: AARS2 HGNC NCBI
TMEM151B HGNC NCBI
POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs3831223
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44301930_44301932dup , CM000668.2:g.44301930_44301932dup GRCh38
NC_000006.11:g.44269667_44269669dup , CM000668.1:g.44269667_44269669dup GRCh37
NC_000006.10:g.44377645_44377647dup NCBI36
NG_031952.1:g.16397_16399dup

Transcript Alleles

HGVS Amino-acid change
ENST00000244571.5:c.2598+130_2598+132dup (AARS2) MANE Select ENSP00000244571.4:n.2598+130_2598+132dup
ENST00000244571.4:c.2598+130_2598+132dup (AARS2) ENSP00000244571.4:n.2598+130_2598+132dup
ENST00000438774.2:c.577-5013_577-5011dup (TMEM151B) ENSP00000409337.2:n.577-5013_577-5011dup
ENST00000505802.1:c.314-5013_314-5011dup
NM_020745.3:c.2598+130_2598+132dup (AARS2) NP_065796.1:n.2598+130_2598+132dup
XM_005249245.2:c.2307+130_2307+132dup (AARS2) XP_005249302.1:n.2307+130_2307+132dup
XM_011514764.1:c.2598+130_2598+132dup (AARS2) XP_011513066.1:n.2598+130_2598+132dup
XR_241907.2:n.2523+130_2523+132dup (AARS2)
XM_005249245.3:c.2307+130_2307+132dup (AARS2) XP_005249302.1:n.2307+130_2307+132dup
XM_011514764.2:c.2598+130_2598+132dup (AARS2) XP_011513066.1:n.2598+130_2598+132dup
XM_017011112.1:c.1308+130_1308+132dup (AARS2) XP_016866601.1:n.1308+130_1308+132dup
NM_020745.4:c.2598+130_2598+132dup (AARS2) MANE Select NP_065796.2:n.2598+130_2598+132dup
NM_001318876.2:c.946-139960_946-139958dup (POLR1C) NP_001305805.1:n.946-139960_946-139958dup...
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