Canonical Allele Identifier: CA860272918

Gene: DYNC2I2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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