Canonical Allele Identifier: CA941656900

Gene: DYNC2H1

Linked Data

• dbSNP Id: rs1862225323
• gnomAD v3: 11-103189846-T-C
• gnomAD v4: 11-103189846-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103189846T>C , CM000673.2:g.103189846T>C	GRCh38
NC_000011.9:g.103060575T>C , CM000673.1:g.103060575T>C	GRCh37
NC_000011.8:g.102565785T>C	NCBI36
NG_016423.1:g.85416T>C
NG_016423.2:g.85416T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.7437+30T>C MANE Plus Clinical	ENSP00000497174.1:n.7437+30T>C
ENST00000375735.7:c.7437+30T>C MANE Select	ENSP00000364887.2:n.7437+30T>C
ENST00000649323.1:c.*4982+30T>C	ENSP00000497581.1:n.*4982+30T>C
ENST00000650373.1:c.7437+30T>C	ENSP00000497174.1:n.7437+30T>C
ENST00000334267.11:c.2205+55427T>C	ENSP00000334021.7:n.2205+55427T>C
ENST00000375735.6:c.7437+30T>C	ENSP00000364887.2:n.7437+30T>C
ENST00000398093.7:c.7437+30T>C	ENSP00000381167.3:n.7437+30T>C
NM_001080463.1:c.7437+30T>C	NP_001073932.1:n.7437+30T>C
NM_001377.2:c.7437+30T>C	NP_001368.2:n.7437+30T>C
XM_006718903.2:c.7437+30T>C	XP_006718966.1:n.7437+30T>C
XM_017018291.1:c.7437+30T>C	XP_016873780.1:n.7437+30T>C
XM_017018292.1:c.6819+30T>C	XP_016873781.1:n.6819+30T>C
XM_017018293.1:c.7437+30T>C	XP_016873782.1:n.7437+30T>C
NM_001377.3:c.7437+30T>C MANE Select	NP_001368.2:n.7437+30T>C
NM_001080463.2:c.7437+30T>C MANE Plus Clinical	NP_001073932.1:n.7437+30T>C