Canonical Allele Identifier: CA891309335

Gene: DARS2

Linked Data

• dbSNP Id: rs1331471738
• gnomAD v3: 1-173857327-C-T
• gnomAD v4: 1-173857327-C-T
• MyVariant Identifiers: chr1:g.173826465C>T (hg19) ; chr1:g.173857327C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857327C>T , CM000663.2:g.173857327C>T	GRCh38
NC_000001.10:g.173826465C>T , CM000663.1:g.173826465C>T	GRCh37
NC_000001.9:g.172093088C>T	NCBI36
NG_016138.1:g.37669C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1330-191C>T	ENSP00000497663.1:n.*1330-191C>T
ENST00000647645.1:c.1688-191C>T	ENSP00000497450.1:n.1688-191C>T
ENST00000647730.1:c.*1441-191C>T	ENSP00000497781.1:n.*1441-191C>T
ENST00000647788.1:c.*895-191C>T	ENSP00000497769.1:n.*895-191C>T
ENST00000648271.1:c.*2026C>T	ENSP00000497795.1:n.*2026C>T
ENST00000648807.1:c.1598-191C>T	ENSP00000497472.1:n.1598-191C>T
ENST00000648960.1:c.1268-191C>T	ENSP00000497091.1:n.1268-191C>T
ENST00000649067.1:c.*563C>T	ENSP00000497052.1:n.*563C>T
ENST00000649689.2:c.1751-191C>T MANE Select	ENSP00000497569.1:n.1751-191C>T
ENST00000361951.4:c.1751-191C>T	ENSP00000355086.4:n.1751-191C>T
ENST00000471476.1:n.573-191C>T
NM_018122.4:c.1751-191C>T	NP_060592.2:n.1751-191C>T
XM_006711427.2:c.1598-191C>T	XP_006711490.1:n.1598-191C>T
NM_001365212.1:c.1598-191C>T	NP_001352141.1:n.1598-191C>T
NM_018122.5:c.1751-191C>T MANE Select	NP_060592.2:n.1751-191C>T