Canonical Allele Identifier: CA2649165080

Gene: DARS2

Linked Data

• gnomAD v4: 1-173857401-GCTAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173857402_173857405del , CM000663.2:g.173857402_173857405del	GRCh38
NC_000001.10:g.173826540_173826543del , CM000663.1:g.173826540_173826543del	GRCh37
NC_000001.9:g.172093163_172093166del	NCBI36
NG_016138.1:g.37744_37747del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471476.2:c.*1330-116_*1330-113del	ENSP00000497663.1:n.*1330-116_*1330-113del
ENST00000647645.1:c.1688-116_1688-113del	ENSP00000497450.1:n.1688-116_1688-113del
ENST00000647730.1:c.*1441-116_*1441-113del	ENSP00000497781.1:n.*1441-116_*1441-113del
ENST00000647788.1:c.*895-116_*895-113del	ENSP00000497769.1:n.*895-116_*895-113del
ENST00000648271.1:c.*2101_*2104del	ENSP00000497795.1:n.*2101_*2104del
ENST00000648807.1:c.1598-116_1598-113del	ENSP00000497472.1:n.1598-116_1598-113del
ENST00000648960.1:c.1268-116_1268-113del	ENSP00000497091.1:n.1268-116_1268-113del
ENST00000649067.1:c.*638_*641del	ENSP00000497052.1:n.*638_*641del
ENST00000649689.2:c.1751-116_1751-113del MANE Select	ENSP00000497569.1:n.1751-116_1751-113del
ENST00000361951.4:c.1751-116_1751-113del	ENSP00000355086.4:n.1751-116_1751-113del
ENST00000471476.1:n.573-116_573-113del
NM_018122.4:c.1751-116_1751-113del	NP_060592.2:n.1751-116_1751-113del
XM_006711427.2:c.1598-116_1598-113del	XP_006711490.1:n.1598-116_1598-113del
NM_001365212.1:c.1598-116_1598-113del	NP_001352141.1:n.1598-116_1598-113del
NM_018122.5:c.1751-116_1751-113del MANE Select	NP_060592.2:n.1751-116_1751-113del