Canonical Allele Identifier: CA5266710

Gene: DYNC2I2

Linked Data

• dbSNP Id: rs12380424
• ExAC: 9:131403221 G / C
• gnomAD v2: 9-131403221-G-C
• gnomAD v3: 9-128640942-G-C
• gnomAD v4: 9-128640942-G-C
• MyVariant Identifiers: chr9:g.131403221G>C (hg19) ; chr9:g.128640942G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128640942G>C , CM000671.2:g.128640942G>C	GRCh38
NC_000009.11:g.131403221G>C , CM000671.1:g.131403221G>C	GRCh37
NC_000009.10:g.130443042G>C	NCBI36
NG_034056.1:g.20909C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000372715.7:c.187-3C>G MANE Select	ENSP00000361800.2:n.187-3C>G
ENST00000419989.2:c.142-3C>G	ENSP00000415421.1:n.142-3C>G
ENST00000480613.6:n.142-3C>G
ENST00000372715.6:c.187-3C>G	ENSP00000361800.2:n.187-3C>G
ENST00000419989.1:c.142-3C>G	ENSP00000415421.1:n.142-3C>G
ENST00000451652.5:c.160-3C>G	ENSP00000411370.1:n.160-3C>G
ENST00000480613.5:n.142-3C>G
NM_052844.3:c.187-3C>G	NP_443076.2:n.187-3C>G
XM_011519179.1:c.187-3C>G	XP_011517481.1:n.187-3C>G
XM_011519179.2:c.187-3C>G	XP_011517481.1:n.187-3C>G
NM_052844.4:c.187-3C>G MANE Select	NP_443076.2:n.187-3C>G