Canonical Allele Identifier: CA382242918

Gene: DYNC2H1

Linked Data

• gnomAD v4: 11-103173199-T-A
• MyVariant Identifiers: chr11:g.103043928T>A (hg19) ; chr11:g.103173199T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103173199T>A , CM000673.2:g.103173199T>A	GRCh38
NC_000011.9:g.103043928T>A , CM000673.1:g.103043928T>A	GRCh37
NC_000011.8:g.102549138T>A	NCBI36
NG_016423.1:g.68769T>A
NG_016423.2:g.68769T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.5452T>A MANE Plus Clinical	ENSP00000497174.1:p.Ser1818Thr
ENST00000375735.7:c.5452T>A MANE Select	ENSP00000364887.2:p.Ser1818Thr
ENST00000649323.1:c.*2997T>A	ENSP00000497581.1:n.*2997T>A
ENST00000650373.1:c.5452T>A	ENSP00000497174.1:p.Ser1818Thr
ENST00000334267.11:c.2205+38780T>A	ENSP00000334021.7:n.2205+38780T>A
ENST00000375735.6:c.5452T>A	ENSP00000364887.2:p.Ser1818Thr
ENST00000398093.7:c.5452T>A	ENSP00000381167.3:p.Ser1818Thr
NM_001080463.1:c.5452T>A	NP_001073932.1:p.Ser1818Thr
NM_001377.2:c.5452T>A	NP_001368.2:p.Ser1818Thr
XM_006718903.2:c.5452T>A	XP_006718966.1:p.Ser1818Thr
XM_017018291.1:c.5452T>A	XP_016873780.1:p.Ser1818Thr
XM_017018292.1:c.4834T>A	XP_016873781.1:p.Ser1612Thr
XM_017018293.1:c.5452T>A	XP_016873782.1:p.Ser1818Thr
NM_001377.3:c.5452T>A MANE Select	NP_001368.2:p.Ser1818Thr
NM_001080463.2:c.5452T>A MANE Plus Clinical	NP_001073932.1:p.Ser1818Thr