Canonical Allele Identifier: CA1624922736

Linked Data

dbSNP Id: rs1583049447
gnomAD v4: 6-44301961-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44301961A>C , CM000668.2:g.44301961A>C GRCh38
NC_000006.11:g.44269698A>C , CM000668.1:g.44269698A>C GRCh37
NC_000006.10:g.44377676A>C NCBI36
NG_031952.1:g.16366T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000244571.5:c.2598+99T>G (AARS2) MANE Select ENSP00000244571.4:n.2598+99T>G
ENST00000244571.4:c.2598+99T>G (AARS2) ENSP00000244571.4:n.2598+99T>G
ENST00000438774.2:c.577-4982A>C (TMEM151B) ENSP00000409337.2:n.577-4982A>C
ENST00000505802.1:c.314-4982A>C
NM_020745.3:c.2598+99T>G (AARS2) NP_065796.1:n.2598+99T>G
XM_005249245.2:c.2307+99T>G (AARS2) XP_005249302.1:n.2307+99T>G
XM_011514764.1:c.2598+99T>G (AARS2) XP_011513066.1:n.2598+99T>G
XR_241907.2:n.2523+99T>G (AARS2)
XM_005249245.3:c.2307+99T>G (AARS2) XP_005249302.1:n.2307+99T>G
XM_011514764.2:c.2598+99T>G (AARS2) XP_011513066.1:n.2598+99T>G
XM_017011112.1:c.1308+99T>G (AARS2) XP_016866601.1:n.1308+99T>G
NM_020745.4:c.2598+99T>G (AARS2) MANE Select NP_065796.2:n.2598+99T>G
NM_001318876.2:c.946-139929A>C (POLR1C) NP_001305805.1:n.946-139929A>C