Canonical Allele Identifier: CA891309380

Gene: DARS2

Linked Data

• dbSNP Id: rs1351519142
• gnomAD v3: 1-173857443-CTT-C
• gnomAD v4: 1-173857443-CTT-C
• MyVariant Identifiers: chr1:g.173826582_173826583del (hg19) ; chr1:g.173857444_173857445del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857446_173857447del , CM000663.2:g.173857446_173857447del	GRCh38
NC_000001.10:g.173826584_173826585del , CM000663.1:g.173826584_173826585del	GRCh37
NC_000001.9:g.172093207_172093208del	NCBI36
NG_016138.1:g.37788_37789del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1330-72_*1330-71del	ENSP00000497663.1:n.*1330-72_*1330-71del
ENST00000647645.1:c.1688-72_1688-71del	ENSP00000497450.1:n.1688-72_1688-71del
ENST00000647730.1:c.*1441-72_*1441-71del	ENSP00000497781.1:n.*1441-72_*1441-71del
ENST00000647788.1:c.*895-72_*895-71del	ENSP00000497769.1:n.*895-72_*895-71del
ENST00000648271.1:c.*2145_*2146del	ENSP00000497795.1:n.*2145_*2146del
ENST00000648807.1:c.1598-72_1598-71del	ENSP00000497472.1:n.1598-72_1598-71del
ENST00000648960.1:c.1268-72_1268-71del	ENSP00000497091.1:n.1268-72_1268-71del
ENST00000649067.1:c.*682_*683del	ENSP00000497052.1:n.*682_*683del
ENST00000649689.2:c.1751-72_1751-71del MANE Select	ENSP00000497569.1:n.1751-72_1751-71del
ENST00000361951.4:c.1751-72_1751-71del	ENSP00000355086.4:n.1751-72_1751-71del
ENST00000471476.1:n.573-72_573-71del
NM_018122.4:c.1751-72_1751-71del	NP_060592.2:n.1751-72_1751-71del
XM_006711427.2:c.1598-72_1598-71del	XP_006711490.1:n.1598-72_1598-71del
NM_001365212.1:c.1598-72_1598-71del	NP_001352141.1:n.1598-72_1598-71del
NM_018122.5:c.1751-72_1751-71del MANE Select	NP_060592.2:n.1751-72_1751-71del