Canonical Allele Identifier: CA2578633224
Gene: AARS2 HGNC NCBI
TMEM151B HGNC NCBI
POLR1C HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44302025T>C , CM000668.2:g.44302025T>C GRCh38
NC_000006.11:g.44269762T>C , CM000668.1:g.44269762T>C GRCh37
NC_000006.10:g.44377740T>C NCBI36
NG_031952.1:g.16302A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000244571.5:c.2598+35A>G (AARS2) MANE Select ENSP00000244571.4:n.2598+35A>G
ENST00000244571.4:c.2598+35A>G (AARS2) ENSP00000244571.4:n.2598+35A>G
ENST00000438774.2:c.577-4918T>C (TMEM151B) ENSP00000409337.2:n.577-4918T>C
ENST00000505802.1:c.314-4918T>C
NM_020745.3:c.2598+35A>G (AARS2) NP_065796.1:n.2598+35A>G
XM_005249245.2:c.2307+35A>G (AARS2) XP_005249302.1:n.2307+35A>G
XM_011514764.1:c.2598+35A>G (AARS2) XP_011513066.1:n.2598+35A>G
XR_241907.2:n.2523+35A>G (AARS2)
XM_005249245.3:c.2307+35A>G (AARS2) XP_005249302.1:n.2307+35A>G
XM_011514764.2:c.2598+35A>G (AARS2) XP_011513066.1:n.2598+35A>G
XM_017011112.1:c.1308+35A>G (AARS2) XP_016866601.1:n.1308+35A>G
NM_020745.4:c.2598+35A>G (AARS2) MANE Select NP_065796.2:n.2598+35A>G
NM_001318876.2:c.946-139865T>C (POLR1C) NP_001305805.1:n.946-139865T>C
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