Canonical Allele Identifier: CA200421123

Gene: DYNC2I2

Linked Data

• dbSNP Id: rs587777097
• gnomAD v4: 9-128636991-G-C
• MyVariant Identifiers: chr9:g.131399270G>C (hg19) ; chr9:g.128636991G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128636991G>C , CM000671.2:g.128636991G>C	GRCh38
NC_000009.11:g.131399270G>C , CM000671.1:g.131399270G>C	GRCh37
NC_000009.10:g.130439091G>C	NCBI36
NG_034056.1:g.24860C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000372715.7:c.472C>G MANE Select	ENSP00000361800.2:p.Gln158Glu
ENST00000419989.2:c.391-553C>G	ENSP00000415421.1:n.391-553C>G
ENST00000480613.6:n.391-553C>G
ENST00000372715.6:c.472C>G	ENSP00000361800.2:p.Gln158Glu
ENST00000419989.1:c.391-553C>G	ENSP00000415421.1:n.391-553C>G
ENST00000451652.5:c.445C>G	ENSP00000411370.1:p.Gln149Glu
ENST00000473486.1:n.38C>G
ENST00000480613.5:n.391-553C>G
NM_052844.3:c.472C>G	NP_443076.2:p.Gln158Glu
XM_011519179.1:c.472C>G	XP_011517481.1:p.Gln158Glu
XM_011519179.2:c.472C>G	XP_011517481.1:p.Gln158Glu
NM_052844.4:c.472C>G MANE Select	NP_443076.2:p.Gln158Glu