Canonical Allele Identifier: CA32784446

Gene: DARS2

Linked Data

• dbSNP Id: rs1008375476
• gnomAD v2: 1-173826495-TCAAA-T
• gnomAD v3: 1-173857357-TCAAA-T
• gnomAD v4: 1-173857357-TCAAA-T
• MyVariant Identifiers: chr1:g.173826496_173826499del (hg19) ; chr1:g.173857358_173857361del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857366_173857369del , CM000663.2:g.173857366_173857369del	GRCh38
NC_000001.10:g.173826504_173826507del , CM000663.1:g.173826504_173826507del	GRCh37
NC_000001.9:g.172093127_172093130del	NCBI36
NG_016138.1:g.37708_37711del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1330-152_*1330-149del	ENSP00000497663.1:n.*1330-152_*1330-149del
ENST00000647645.1:c.1688-152_1688-149del	ENSP00000497450.1:n.1688-152_1688-149del
ENST00000647730.1:c.*1441-152_*1441-149del	ENSP00000497781.1:n.*1441-152_*1441-149del
ENST00000647788.1:c.*895-152_*895-149del	ENSP00000497769.1:n.*895-152_*895-149del
ENST00000648271.1:c.*2065_*2068del	ENSP00000497795.1:n.*2065_*2068del
ENST00000648807.1:c.1598-152_1598-149del	ENSP00000497472.1:n.1598-152_1598-149del
ENST00000648960.1:c.1268-152_1268-149del	ENSP00000497091.1:n.1268-152_1268-149del
ENST00000649067.1:c.*602_*605del	ENSP00000497052.1:n.*602_*605del
ENST00000649689.2:c.1751-152_1751-149del MANE Select	ENSP00000497569.1:n.1751-152_1751-149del
ENST00000361951.4:c.1751-152_1751-149del	ENSP00000355086.4:n.1751-152_1751-149del
ENST00000471476.1:n.573-152_573-149del
NM_018122.4:c.1751-152_1751-149del	NP_060592.2:n.1751-152_1751-149del
XM_006711427.2:c.1598-152_1598-149del	XP_006711490.1:n.1598-152_1598-149del
NM_001365212.1:c.1598-152_1598-149del	NP_001352141.1:n.1598-152_1598-149del
NM_018122.5:c.1751-152_1751-149del MANE Select	NP_060592.2:n.1751-152_1751-149del