Canonical Allele Identifier: CA382258138

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103204856G>T , CM000673.2:g.103204856G>T	GRCh38
NC_000011.9:g.103075585G>T , CM000673.1:g.103075585G>T	GRCh37
NC_000011.8:g.102580795G>T	NCBI36
NG_016423.1:g.100426G>T
NG_016423.2:g.100426G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.8346G>T MANE Select	NP_001368.2:p.Met2782Ile
ENST00000375735.7:c.8346G>T MANE Select	ENSP00000364887.2:p.Met2782Ile
NM_001080463.2:c.8346G>T MANE Plus Clinical	NP_001073932.1:p.Met2782Ile
ENST00000650373.2:c.8346G>T MANE Plus Clinical	ENSP00000497174.1:p.Met2782Ile
NM_001080463.1:c.8346G>T	NP_001073932.1:p.Met2782Ile
NM_001377.2:c.8346G>T	NP_001368.2:p.Met2782Ile
ENST00000334267.11:c.2205+70437G>T	ENSP00000334021.7:n.2205+70437G>T
ENST00000375735.6:c.8346G>T	ENSP00000364887.2:p.Met2782Ile
ENST00000398093.7:c.8346G>T	ENSP00000381167.3:p.Met2782Ile
ENST00000649323.1:c.*5870G>T	ENSP00000497581.1:n.*5870G>T
ENST00000650373.1:c.8346G>T	ENSP00000497174.1:p.Met2782Ile
XM_006718903.2:c.8325G>T	XP_006718966.1:p.Met2775Ile
XM_017018291.1:c.8346G>T	XP_016873780.1:p.Met2782Ile
XM_017018292.1:c.7728G>T	XP_016873781.1:p.Met2576Ile