Canonical Allele Identifier: CA891309692

Gene: DARS2

Linked Data

• dbSNP Id: rs1300101788
• gnomAD v3: 1-173833323-A-T
• gnomAD v4: 1-173833323-A-T
• MyVariant Identifiers: chr1:g.173802461A>T (hg19) ; chr1:g.173833323A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173833323A>T , CM000663.2:g.173833323A>T	GRCh38
NC_000001.10:g.173802461A>T , CM000663.1:g.173802461A>T	GRCh37
NC_000001.9:g.172069084A>T	NCBI36
NG_016138.1:g.13665A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000471476.2:c.*183-53A>T	ENSP00000497663.1:n.*183-53A>T
ENST00000647645.1:c.493-53A>T	ENSP00000497450.1:n.493-53A>T
ENST00000647730.1:c.*183-53A>T	ENSP00000497781.1:n.*183-53A>T
ENST00000647788.1:c.*183-53A>T	ENSP00000497769.1:n.*183-53A>T
ENST00000648271.1:c.*183-53A>T	ENSP00000497795.1:n.*183-53A>T
ENST00000648458.1:c.493-53A>T	ENSP00000497874.1:n.493-53A>T
ENST00000648807.1:c.493-53A>T	ENSP00000497472.1:n.493-53A>T
ENST00000648960.1:c.493-53A>T	ENSP00000497091.1:n.493-53A>T
ENST00000649067.1:c.493-53A>T	ENSP00000497052.1:n.493-53A>T
ENST00000649689.2:c.493-53A>T MANE Select	ENSP00000497569.1:n.493-53A>T
ENST00000650297.1:n.876-53A>T
ENST00000361951.4:c.493-53A>T	ENSP00000355086.4:n.493-53A>T
NM_018122.4:c.493-53A>T	NP_060592.2:n.493-53A>T
XM_006711427.2:c.493-53A>T	XP_006711490.1:n.493-53A>T
XM_011509711.1:c.493-53A>T	XP_011508013.1:n.493-53A>T
NM_001365212.1:c.493-53A>T	NP_001352141.1:n.493-53A>T
NM_001365213.1:c.493-53A>T	NP_001352142.1:n.493-53A>T
NM_018122.5:c.493-53A>T MANE Select	NP_060592.2:n.493-53A>T
NM_001365213.2:c.493-53A>T	NP_001352142.1:n.493-53A>T