Canonical Allele Identifier: CA364337729

Gene: AARS2 TMEM151B POLR1C

Linked Data

• gnomAD v4: 6-44303393-C-A
• MyVariant Identifiers: chr6:g.44271130C>A (hg19) ; chr6:g.44303393C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44303393C>A , CM000668.2:g.44303393C>A	GRCh38
NC_000006.11:g.44271130C>A , CM000668.1:g.44271130C>A	GRCh37
NC_000006.10:g.44379108C>A	NCBI36
NG_031952.1:g.14934G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2038G>T (AARS2) MANE Select	ENSP00000244571.4:p.Val680Leu
ENST00000244571.4:c.2038G>T (AARS2)	ENSP00000244571.4:p.Val680Leu
ENST00000438774.2:c.577-3550C>A (TMEM151B)	ENSP00000409337.2:n.577-3550C>A
ENST00000505802.1:c.314-3550C>A
NM_020745.3:c.2038G>T (AARS2)	NP_065796.1:p.Val680Leu
XM_005249245.2:c.1747G>T (AARS2)	XP_005249302.1:p.Val583Leu
XM_011514764.1:c.2038G>T (AARS2)	XP_011513066.1:p.Val680Leu
XR_241907.2:n.2073G>T (AARS2)
XM_005249245.3:c.1747G>T (AARS2)	XP_005249302.1:p.Val583Leu
XM_011514764.2:c.2038G>T (AARS2)	XP_011513066.1:p.Val680Leu
XM_017011112.1:c.748G>T (AARS2)	XP_016866601.1:p.Val250Leu
NM_020745.4:c.2038G>T (AARS2) MANE Select	NP_065796.2:p.Val680Leu
NM_001318876.2:c.946-138497C>A (POLR1C)	NP_001305805.1:n.946-138497C>A