Canonical Allele Identifier: CA3834110

Linked Data

dbSNP Id: rs768192967
gnomAD v2: 6-44271084-T-G
gnomAD v4: 6-44303347-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44303347T>G , CM000668.2:g.44303347T>G GRCh38
NC_000006.11:g.44271084T>G , CM000668.1:g.44271084T>G GRCh37
NC_000006.10:g.44379062T>G NCBI36
NG_031952.1:g.14980A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000244571.5:c.2084A>C (AARS2) MANE Select ENSP00000244571.4:p.Tyr695Ser
ENST00000244571.4:c.2084A>C (AARS2) ENSP00000244571.4:p.Tyr695Ser
ENST00000438774.2:c.577-3596T>G (TMEM151B) ENSP00000409337.2:n.577-3596T>G
ENST00000505802.1:c.314-3596T>G
NM_020745.3:c.2084A>C (AARS2) NP_065796.1:p.Tyr695Ser
XM_005249245.2:c.1793A>C (AARS2) XP_005249302.1:p.Tyr598Ser
XM_011514764.1:c.2084A>C (AARS2) XP_011513066.1:p.Tyr695Ser
XR_241907.2:n.2119A>C (AARS2)
XM_005249245.3:c.1793A>C (AARS2) XP_005249302.1:p.Tyr598Ser
XM_011514764.2:c.2084A>C (AARS2) XP_011513066.1:p.Tyr695Ser
XM_017011112.1:c.794A>C (AARS2) XP_016866601.1:p.Tyr265Ser
NM_020745.4:c.2084A>C (AARS2) MANE Select NP_065796.2:p.Tyr695Ser
NM_001318876.2:c.946-138543T>G (POLR1C) NP_001305805.1:n.946-138543T>G