Canonical Allele Identifier: CA3834088

Gene: AARS2 TMEM151B POLR1C

Linked Data

• dbSNP Id: rs775081948
• ExAC: 6:44270948 AAGG / A
• gnomAD v2: 6-44270948-AAGG-A
• gnomAD v3: 6-44303211-AAGG-A
• gnomAD v4: 6-44303211-AAGG-A
• MyVariant Identifiers: chr6:g.44270949_44270951del (hg19) ; chr6:g.44303212_44303214del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44303214_44303216del , CM000668.2:g.44303214_44303216del	GRCh38
NC_000006.11:g.44270951_44270953del , CM000668.1:g.44270951_44270953del	GRCh37
NC_000006.10:g.44378929_44378931del	NCBI36
NG_031952.1:g.15113_15115del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2146-39_2146-37del (AARS2) MANE Select	ENSP00000244571.4:n.2146-39_2146-37del
ENST00000244571.4:c.2146-39_2146-37del (AARS2)	ENSP00000244571.4:n.2146-39_2146-37del
ENST00000438774.2:c.577-3729_577-3727del (TMEM151B)	ENSP00000409337.2:n.577-3729_577-3727del
ENST00000505802.1:c.314-3729_314-3727del
NM_020745.3:c.2146-39_2146-37del (AARS2)	NP_065796.1:n.2146-39_2146-37del
XM_005249245.2:c.1855-39_1855-37del (AARS2)	XP_005249302.1:n.1855-39_1855-37del
XM_011514764.1:c.2146-39_2146-37del (AARS2)	XP_011513066.1:n.2146-39_2146-37del
XR_241907.2:n.2180+72_2180+74del (AARS2)
XM_005249245.3:c.1855-39_1855-37del (AARS2)	XP_005249302.1:n.1855-39_1855-37del
XM_011514764.2:c.2146-39_2146-37del (AARS2)	XP_011513066.1:n.2146-39_2146-37del
XM_017011112.1:c.856-39_856-37del (AARS2)	XP_016866601.1:n.856-39_856-37del
NM_020745.4:c.2146-39_2146-37del (AARS2) MANE Select	NP_065796.2:n.2146-39_2146-37del
NM_001318876.2:c.946-138676_946-138674del (POLR1C)	NP_001305805.1:n.946-138676_946-138674del