Canonical Allele Identifier: CA1250246

Gene: DARS2

Linked Data

• dbSNP Id: rs775947767
• ExAC: 1:173807366 C / T
• gnomAD v2: 1-173807366-C-T
• gnomAD v4: 1-173838228-C-T
• MyVariant Identifiers: chr1:g.173807366C>T (hg19) ; chr1:g.173838228C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173838228C>T , CM000663.2:g.173838228C>T	GRCh38
NC_000001.10:g.173807366C>T , CM000663.1:g.173807366C>T	GRCh37
NC_000001.9:g.172073989C>T	NCBI36
NG_016138.1:g.18570C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*499C>T	ENSP00000497663.1:n.*499C>T
ENST00000647645.1:c.809C>T	ENSP00000497450.1:p.Ser270Leu
ENST00000647730.1:c.*499C>T	ENSP00000497781.1:n.*499C>T
ENST00000647788.1:c.*499C>T	ENSP00000497769.1:n.*499C>T
ENST00000648271.1:c.*499C>T	ENSP00000497795.1:n.*499C>T
ENST00000648458.1:c.809C>T	ENSP00000497874.1:p.Ser270Leu
ENST00000648807.1:c.809C>T	ENSP00000497472.1:p.Ser270Leu
ENST00000648960.1:c.809C>T	ENSP00000497091.1:p.Ser270Leu
ENST00000649067.1:c.809C>T	ENSP00000497052.1:p.Ser270Leu
ENST00000649106.1:c.120-1139C>T
ENST00000649689.2:c.809C>T MANE Select	ENSP00000497569.1:p.Ser270Leu
ENST00000650297.1:n.1192C>T
ENST00000361951.4:c.809C>T	ENSP00000355086.4:p.Ser270Leu
NM_018122.4:c.809C>T	NP_060592.2:p.Ser270Leu
XM_006711427.2:c.809C>T	XP_006711490.1:p.Ser270Leu
XM_011509711.1:c.809C>T	XP_011508013.1:p.Ser270Leu
NM_001365212.1:c.809C>T	NP_001352141.1:p.Ser270Leu
NM_001365213.1:c.809C>T	NP_001352142.1:p.Ser270Leu
NM_018122.5:c.809C>T MANE Select	NP_060592.2:p.Ser270Leu
NM_001365213.2:c.809C>T	NP_001352142.1:p.Ser270Leu