Canonical Allele Identifier: CA138385418

Gene: AARS2 TMEM151B POLR1C

Linked Data

• dbSNP Id: rs910317117
• gnomAD v4: 6-44302849-T-C
• MyVariant Identifiers: chr6:g.44270586T>C (hg19) ; chr6:g.44302849T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302849T>C , CM000668.2:g.44302849T>C	GRCh38
NC_000006.11:g.44270586T>C , CM000668.1:g.44270586T>C	GRCh37
NC_000006.10:g.44378564T>C	NCBI36
NG_031952.1:g.15478A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2317A>G (AARS2) MANE Select	ENSP00000244571.4:p.Lys773Glu
ENST00000244571.4:c.2317A>G (AARS2)	ENSP00000244571.4:p.Lys773Glu
ENST00000438774.2:c.577-4094T>C (TMEM151B)	ENSP00000409337.2:n.577-4094T>C
ENST00000505802.1:c.314-4094T>C
NM_020745.3:c.2317A>G (AARS2)	NP_065796.1:p.Lys773Glu
XM_005249245.2:c.2026A>G (AARS2)	XP_005249302.1:p.Lys676Glu
XM_011514764.1:c.2317A>G (AARS2)	XP_011513066.1:p.Lys773Glu
XR_241907.2:n.2242A>G (AARS2)
XM_005249245.3:c.2026A>G (AARS2)	XP_005249302.1:p.Lys676Glu
XM_011514764.2:c.2317A>G (AARS2)	XP_011513066.1:p.Lys773Glu
XM_017011112.1:c.1027A>G (AARS2)	XP_016866601.1:p.Lys343Glu
NM_020745.4:c.2317A>G (AARS2) MANE Select	NP_065796.2:p.Lys773Glu
NM_001318876.2:c.946-139041T>C (POLR1C)	NP_001305805.1:n.946-139041T>C