Canonical Allele Identifier: CA2678954348
Gene: AARS2 HGNC NCBI
TMEM151B HGNC NCBI
POLR1C HGNC NCBI

Linked Data

gnomAD v4: 6-44304979-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44304979A>C , CM000668.2:g.44304979A>C GRCh38
NC_000006.11:g.44272716A>C , CM000668.1:g.44272716A>C GRCh37
NC_000006.10:g.44380694A>C NCBI36
NG_031952.1:g.13348T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000244571.5:c.1579+75T>G (AARS2) MANE Select ENSP00000244571.4:n.1579+75T>G
ENST00000244571.4:c.1579+75T>G (AARS2) ENSP00000244571.4:n.1579+75T>G
ENST00000438774.2:c.577-1964A>C (TMEM151B) ENSP00000409337.2:n.577-1964A>C
ENST00000505802.1:c.314-1964A>C
NM_020745.3:c.1579+75T>G (AARS2) NP_065796.1:n.1579+75T>G
XM_005249245.2:c.1288+75T>G (AARS2) XP_005249302.1:n.1288+75T>G
XM_011514764.1:c.1579+75T>G (AARS2) XP_011513066.1:n.1579+75T>G
XR_241907.2:n.1614+75T>G (AARS2)
XM_005249245.3:c.1288+75T>G (AARS2) XP_005249302.1:n.1288+75T>G
XM_011514764.2:c.1579+75T>G (AARS2) XP_011513066.1:n.1579+75T>G
XM_017011112.1:c.289+75T>G (AARS2) XP_016866601.1:n.289+75T>G
NM_020745.4:c.1579+75T>G (AARS2) MANE Select NP_065796.2:n.1579+75T>G
NM_001318876.2:c.946-136911A>C (POLR1C) NP_001305805.1:n.946-136911A>C
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