Canonical Allele Identifier: CA1996392251
Gene: DYNC2H1 HGNC NCBI

Linked Data

dbSNP Id: rs1858944288

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103125411_103125419dup , CM000673.2:g.103125411_103125419dup GRCh38
NC_000011.9:g.102996140_102996148dup , CM000673.1:g.102996140_102996148dup GRCh37
NC_000011.8:g.102501350_102501358dup NCBI36
NG_016423.1:g.20981_20989dup
NG_016423.2:g.20981_20989dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000650373.2:c.1857+116_1857+124dup MANE Plus Clinical ENSP00000497174.1:n.1857+116_1857+124dup
ENST00000375735.7:c.1857+116_1857+124dup MANE Select ENSP00000364887.2:n.1857+116_1857+124dup
ENST00000648198.1:c.1857+116_1857+124dup ENSP00000497329.1:n.1857+116_1857+124dup
ENST00000649323.1:c.1857+116_1857+124dup ENSP00000497581.1:n.1857+116_1857+124dup
ENST00000650373.1:c.1857+116_1857+124dup ENSP00000497174.1:n.1857+116_1857+124dup
ENST00000334267.11:c.1857+116_1857+124dup ENSP00000334021.7:n.1857+116_1857+124dup
ENST00000375735.6:c.1857+116_1857+124dup ENSP00000364887.2:n.1857+116_1857+124dup
ENST00000398093.7:c.1857+116_1857+124dup ENSP00000381167.3:n.1857+116_1857+124dup
NM_001080463.1:c.1857+116_1857+124dup NP_001073932.1:n.1857+116_1857+124dup
NM_001377.2:c.1857+116_1857+124dup NP_001368.2:n.1857+116_1857+124dup
XM_006718903.2:c.1857+116_1857+124dup XP_006718966.1:n.1857+116_1857+124dup
XM_017018291.1:c.1857+116_1857+124dup XP_016873780.1:n.1857+116_1857+124dup
XM_017018292.1:c.1239+116_1239+124dup XP_016873781.1:n.1239+116_1239+124dup
XM_017018293.1:c.1857+116_1857+124dup XP_016873782.1:n.1857+116_1857+124dup
NM_001377.3:c.1857+116_1857+124dup MANE Select NP_001368.2:n.1857+116_1857+124dup
NM_001080463.2:c.1857+116_1857+124dup MANE Plus Clinical NP_001073932.1:n.1857+116_1857+124dup