Canonical Allele Identifier: CA3834280

Gene: AARS2 TMEM151B POLR1C

Linked Data

• dbSNP Id: rs755439445
• ExAC: 6:44272741 AG / A
• gnomAD v2: 6-44272741-AG-A
• gnomAD v4: 6-44305004-AG-A
• MyVariant Identifiers: chr6:g.44272742del (hg19) ; chr6:g.44305005del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44305005del , CM000668.2:g.44305005del	GRCh38
NC_000006.11:g.44272742del , CM000668.1:g.44272742del	GRCh37
NC_000006.10:g.44380720del	NCBI36
NG_031952.1:g.13322del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.1579+49del (AARS2) MANE Select	ENSP00000244571.4:n.1579+49del
ENST00000244571.4:c.1579+49del (AARS2)	ENSP00000244571.4:n.1579+49del
ENST00000438774.2:c.577-1938del (TMEM151B)	ENSP00000409337.2:n.577-1938del
ENST00000505802.1:c.314-1938del
NM_020745.3:c.1579+49del (AARS2)	NP_065796.1:n.1579+49del
XM_005249245.2:c.1288+49del (AARS2)	XP_005249302.1:n.1288+49del
XM_011514764.1:c.1579+49del (AARS2)	XP_011513066.1:n.1579+49del
XR_241907.2:n.1614+49del (AARS2)
XM_005249245.3:c.1288+49del (AARS2)	XP_005249302.1:n.1288+49del
XM_011514764.2:c.1579+49del (AARS2)	XP_011513066.1:n.1579+49del
XM_017011112.1:c.289+49del (AARS2)	XP_016866601.1:n.289+49del
NM_020745.4:c.1579+49del (AARS2) MANE Select	NP_065796.2:n.1579+49del
NM_001318876.2:c.946-136885del (POLR1C)	NP_001305805.1:n.946-136885del