Canonical Allele Identifier: CA138385371

Linked Data

dbSNP Id: rs1025980496
gnomAD v2: 6-44270562-C-T
gnomAD v3: 6-44302825-C-T
gnomAD v4: 6-44302825-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44302825C>T , CM000668.2:g.44302825C>T GRCh38
NC_000006.11:g.44270562C>T , CM000668.1:g.44270562C>T GRCh37
NC_000006.10:g.44378540C>T NCBI36
NG_031952.1:g.15502G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000244571.5:c.2341G>A (AARS2) MANE Select ENSP00000244571.4:p.Val781Ile
ENST00000244571.4:c.2341G>A (AARS2) ENSP00000244571.4:p.Val781Ile
ENST00000438774.2:c.577-4118C>T (TMEM151B) ENSP00000409337.2:n.577-4118C>T
ENST00000505802.1:c.314-4118C>T
NM_020745.3:c.2341G>A (AARS2) NP_065796.1:p.Val781Ile
XM_005249245.2:c.2050G>A (AARS2) XP_005249302.1:p.Val684Ile
XM_011514764.1:c.2341G>A (AARS2) XP_011513066.1:p.Val781Ile
XR_241907.2:n.2266G>A (AARS2)
XM_005249245.3:c.2050G>A (AARS2) XP_005249302.1:p.Val684Ile
XM_011514764.2:c.2341G>A (AARS2) XP_011513066.1:p.Val781Ile
XM_017011112.1:c.1051G>A (AARS2) XP_016866601.1:p.Val351Ile
NM_020745.4:c.2341G>A (AARS2) MANE Select NP_065796.2:p.Val781Ile
NM_001318876.2:c.946-139065C>T (POLR1C) NP_001305805.1:n.946-139065C>T