Canonical Allele Identifier: CA364337302

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44303072C>A , CM000668.2:g.44303072C>A GRCh38
NC_000006.11:g.44270809C>A , CM000668.1:g.44270809C>A GRCh37
NC_000006.10:g.44378787C>A NCBI36
NG_031952.1:g.15255G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000244571.5:c.2249G>T (AARS2) MANE Select ENSP00000244571.4:p.Cys750Phe
ENST00000244571.4:c.2249G>T (AARS2) ENSP00000244571.4:p.Cys750Phe
ENST00000438774.2:c.577-3871C>A (TMEM151B) ENSP00000409337.2:n.577-3871C>A
ENST00000505802.1:c.314-3871C>A
NM_020745.3:c.2249G>T (AARS2) NP_065796.1:p.Cys750Phe
XM_005249245.2:c.1958G>T (AARS2) XP_005249302.1:p.Cys653Phe
XM_011514764.1:c.2249G>T (AARS2) XP_011513066.1:p.Cys750Phe
XR_241907.2:n.2181-162G>T (AARS2)
XM_005249245.3:c.1958G>T (AARS2) XP_005249302.1:p.Cys653Phe
XM_011514764.2:c.2249G>T (AARS2) XP_011513066.1:p.Cys750Phe
XM_017011112.1:c.959G>T (AARS2) XP_016866601.1:p.Cys320Phe
NM_020745.4:c.2249G>T (AARS2) MANE Select NP_065796.2:p.Cys750Phe
NM_001318876.2:c.946-138818C>A (POLR1C) NP_001305805.1:n.946-138818C>A