Allele Registry

Canonical Allele Identifier: CA324305

Gene: YARS2 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr12:g.32747276_32747278delinsTC

GRCh37 chr12:g.32900210_32900212delinsTC

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000199754

ClinVar Variation:

215426

dbSNP:

863224273

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32747276_32747278delinsTC , CM000674.2:g.32747276_32747278delinsTC	GRCh38
NC_000012.11:g.32900210_32900212delinsTC , CM000674.1:g.32900210_32900212delinsTC	GRCh37
NC_000012.10:g.32791477_32791479delinsTC	NCBI36
NG_012219.1:g.73074_73076delinsTC
NG_028122.1:g.13676_13678delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324868.13:c.1360_1362delinsGA MANE Select	ENSP00000320658.8:p.Ile454AspfsTer11
ENST00000324868.12:c.1360_1362delinsGA	ENSP00000320658.8:p.Ile454AspfsTer11
ENST00000548490.1:c.1247_1249delinsGA	ENSP00000447710.1:n.1247_1249delinsGA
ENST00000551673.5:n.257_259delinsGA
NM_001040436.2:c.1360_1362delinsGA	NP_001035526.1:p.Ile454AspfsTer11
XR_242891.3:n.1447_1449delinsGA
XR_242892.3:n.1447_1449delinsGA
XR_429036.1:n.1447_1449delinsGA
XR_931296.1:n.1447_1449delinsGA
XR_931297.1:n.1447_1449delinsGA
XR_931298.1:n.1447_1449delinsGA
XR_931299.1:n.1447_1449delinsGA
XR_001748730.2:n.1944_1946delinsGA
XR_002957331.1:n.1944_1946delinsGA
XR_242892.5:n.1944_1946delinsGA
XR_931296.3:n.1944_1946delinsGA
NM_001040436.3:c.1360_1362delinsGA MANE Select	NP_001035526.1:p.Ile454AspfsTer11

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