Canonical Allele Identifier: CA1250126

Gene: DARS2

Linked Data

• ClinVar Variation Id: 1903189
• ClinVar RCV Id: RCV002583501
• dbSNP Id: rs763360708
• ExAC: 1:173800651 CCCTT / C
• gnomAD v2: 1-173800651-CCCTT-C
• gnomAD v3: 1-173831513-CCCTT-C
• gnomAD v4: 1-173831513-CCCTT-C
• MyVariant Identifiers: chr1:g.173800652_173800655del (hg19) ; chr1:g.173831515_173831518del (hg38) ; chr1:g.173831514_173831517del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173831519_173831522del , CM000663.2:g.173831519_173831522del	GRCh38
NC_000001.10:g.173800657_173800660del , CM000663.1:g.173800657_173800660del	GRCh37
NC_000001.9:g.172067280_172067283del	NCBI36
NG_016138.1:g.11861_11864del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*87-16_*87-13del	ENSP00000497663.1:n.*87-16_*87-13del
ENST00000647645.1:c.397-16_397-13del	ENSP00000497450.1:n.397-16_397-13del
ENST00000647730.1:c.*87-16_*87-13del	ENSP00000497781.1:n.*87-16_*87-13del
ENST00000647788.1:c.*87-16_*87-13del	ENSP00000497769.1:n.*87-16_*87-13del
ENST00000648271.1:c.*87-16_*87-13del	ENSP00000497795.1:n.*87-16_*87-13del
ENST00000648458.1:c.397-16_397-13del	ENSP00000497874.1:n.397-16_397-13del
ENST00000648807.1:c.397-16_397-13del	ENSP00000497472.1:n.397-16_397-13del
ENST00000648960.1:c.397-16_397-13del	ENSP00000497091.1:n.397-16_397-13del
ENST00000649067.1:c.397-16_397-13del	ENSP00000497052.1:n.397-16_397-13del
ENST00000649689.2:c.397-16_397-13del MANE Select	ENSP00000497569.1:n.397-16_397-13del
ENST00000650297.1:n.780-16_780-13del
ENST00000361951.4:c.397-16_397-13del	ENSP00000355086.4:n.397-16_397-13del
NM_018122.4:c.397-16_397-13del	NP_060592.2:n.397-16_397-13del
XM_006711427.2:c.397-16_397-13del	XP_006711490.1:n.397-16_397-13del
XM_011509711.1:c.397-16_397-13del	XP_011508013.1:n.397-16_397-13del
NM_001365212.1:c.397-16_397-13del	NP_001352141.1:n.397-16_397-13del
NM_001365213.1:c.397-16_397-13del	NP_001352142.1:n.397-16_397-13del
NM_018122.5:c.397-16_397-13del MANE Select	NP_060592.2:n.397-16_397-13del
NM_001365213.2:c.397-16_397-13del	NP_001352142.1:n.397-16_397-13del