Canonical Allele Identifier: CA3833921

Gene: AARS2 TMEM151B POLR1C

Linked Data

• ClinVar Variation Id: 422372
• ClinVar RCV Id: RCV000485414 ; RCV003698791
• dbSNP Id: rs773017457
• ExAC: 6:44269785 ACCT / A
• gnomAD v2: 6-44269785-ACCT-A
• gnomAD v3: 6-44302048-ACCT-A
• gnomAD v4: 6-44302048-ACCT-A
• MyVariant Identifiers: chr6:g.44269786_44269788del (hg19) ; chr6:g.44302049_44302051del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302053_44302055del , CM000668.2:g.44302053_44302055del	GRCh38
NC_000006.11:g.44269790_44269792del , CM000668.1:g.44269790_44269792del	GRCh37
NC_000006.10:g.44377768_44377770del	NCBI36
NG_031952.1:g.16276_16278del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2598+9_2598+11del (AARS2) MANE Select	ENSP00000244571.4:n.2598+9_2598+11del
ENST00000244571.4:c.2598+9_2598+11del (AARS2)	ENSP00000244571.4:n.2598+9_2598+11del
ENST00000438774.2:c.577-4890_577-4888del (TMEM151B)	ENSP00000409337.2:n.577-4890_577-4888del
ENST00000505802.1:c.314-4890_314-4888del
NM_020745.3:c.2598+9_2598+11del (AARS2)	NP_065796.1:n.2598+9_2598+11del
XM_005249245.2:c.2307+9_2307+11del (AARS2)	XP_005249302.1:n.2307+9_2307+11del
XM_011514764.1:c.2598+9_2598+11del (AARS2)	XP_011513066.1:n.2598+9_2598+11del
XR_241907.2:n.2523+9_2523+11del (AARS2)
XM_005249245.3:c.2307+9_2307+11del (AARS2)	XP_005249302.1:n.2307+9_2307+11del
XM_011514764.2:c.2598+9_2598+11del (AARS2)	XP_011513066.1:n.2598+9_2598+11del
XM_017011112.1:c.1308+9_1308+11del (AARS2)	XP_016866601.1:n.1308+9_1308+11del
NM_020745.4:c.2598+9_2598+11del (AARS2) MANE Select	NP_065796.2:n.2598+9_2598+11del
NM_001318876.2:c.946-139837_946-139835del (POLR1C)	NP_001305805.1:n.946-139837_946-139835del