Canonical Allele Identifier: CA1088455976

Gene: AARS2 TMEM151B POLR1C

Linked Data

• dbSNP Id: rs1785370805
• gnomAD v3: 6-44301694-CAGGCCCCTACAAAT-C
• gnomAD v4: 6-44301694-CAGGCCCCTACAAAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44301698_44301711del , CM000668.2:g.44301698_44301711del	GRCh38
NC_000006.11:g.44269435_44269448del , CM000668.1:g.44269435_44269448del	GRCh37
NC_000006.10:g.44377413_44377426del	NCBI36
NG_031952.1:g.16619_16632del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2599-244_2599-231del (AARS2) MANE Select	ENSP00000244571.4:n.2599-244_2599-231del
ENST00000244571.4:c.2599-244_2599-231del (AARS2)	ENSP00000244571.4:n.2599-244_2599-231del
ENST00000438774.2:c.577-5245_577-5232del (TMEM151B)	ENSP00000409337.2:n.577-5245_577-5232del
ENST00000505802.1:c.314-5245_314-5232del
NM_020745.3:c.2599-244_2599-231del (AARS2)	NP_065796.1:n.2599-244_2599-231del
XM_005249245.2:c.2308-244_2308-231del (AARS2)	XP_005249302.1:n.2308-244_2308-231del
XM_011514764.1:c.2599-244_2599-231del (AARS2)	XP_011513066.1:n.2599-244_2599-231del
XR_241907.2:n.2524-244_2524-231del (AARS2)
XM_005249245.3:c.2308-244_2308-231del (AARS2)	XP_005249302.1:n.2308-244_2308-231del
XM_011514764.2:c.2599-244_2599-231del (AARS2)	XP_011513066.1:n.2599-244_2599-231del
XM_017011112.1:c.1309-244_1309-231del (AARS2)	XP_016866601.1:n.1309-244_1309-231del
NM_020745.4:c.2599-244_2599-231del (AARS2) MANE Select	NP_065796.2:n.2599-244_2599-231del
NM_001318876.2:c.946-140192_946-140179del (POLR1C)	NP_001305805.1:n.946-140192_946-140179del