Canonical Allele Identifier: CA2678952282

Gene: AARS2 TMEM151B POLR1C

Linked Data

• gnomAD v4: 6-44300542-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44300542C>G , CM000668.2:g.44300542C>G	GRCh38
NC_000006.11:g.44268279C>G , CM000668.1:g.44268279C>G	GRCh37
NC_000006.10:g.44376257C>G	NCBI36
NG_031952.1:g.17785G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.*5G>C (AARS2) MANE Select	ENSP00000244571.4:n.*5G>C
ENST00000244571.4:c.*5G>C (AARS2)	ENSP00000244571.4:n.*5G>C
ENST00000438774.2:c.577-6401C>G (TMEM151B)	ENSP00000409337.2:n.577-6401C>G
ENST00000505802.1:c.314-6401C>G
NM_020745.3:c.*5G>C (AARS2)	NP_065796.1:n.*5G>C
XM_005249245.2:c.*5G>C (AARS2)	XP_005249302.1:n.*5G>C
XM_011514764.1:c.2793+614G>C (AARS2)	XP_011513066.1:n.2793+614G>C
XR_241907.2:n.2888G>C (AARS2)
XM_005249245.3:c.*5G>C (AARS2)	XP_005249302.1:n.*5G>C
XM_011514764.2:c.2793+614G>C (AARS2)	XP_011513066.1:n.2793+614G>C
XM_017011112.1:c.*5G>C (AARS2)	XP_016866601.1:n.*5G>C
NM_020745.4:c.*5G>C (AARS2) MANE Select	NP_065796.2:n.*5G>C
NM_001318876.2:c.946-141348C>G (POLR1C)	NP_001305805.1:n.946-141348C>G