Canonical Allele Identifier: CA382243029

Gene: DYNC2H1

Linked Data

• MyVariant Identifiers: chr11:g.103043958G>T (hg19) ; chr11:g.103173229G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103173229G>T , CM000673.2:g.103173229G>T	GRCh38
NC_000011.9:g.103043958G>T , CM000673.1:g.103043958G>T	GRCh37
NC_000011.8:g.102549168G>T	NCBI36
NG_016423.1:g.68799G>T
NG_016423.2:g.68799G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.5482G>T MANE Plus Clinical	ENSP00000497174.1:p.Val1828Phe
ENST00000375735.7:c.5482G>T MANE Select	ENSP00000364887.2:p.Val1828Phe
ENST00000649323.1:c.*3027G>T	ENSP00000497581.1:n.*3027G>T
ENST00000650373.1:c.5482G>T	ENSP00000497174.1:p.Val1828Phe
ENST00000334267.11:c.2205+38810G>T	ENSP00000334021.7:n.2205+38810G>T
ENST00000375735.6:c.5482G>T	ENSP00000364887.2:p.Val1828Phe
ENST00000398093.7:c.5482G>T	ENSP00000381167.3:p.Val1828Phe
NM_001080463.1:c.5482G>T	NP_001073932.1:p.Val1828Phe
NM_001377.2:c.5482G>T	NP_001368.2:p.Val1828Phe
XM_006718903.2:c.5482G>T	XP_006718966.1:p.Val1828Phe
XM_017018291.1:c.5482G>T	XP_016873780.1:p.Val1828Phe
XM_017018292.1:c.4864G>T	XP_016873781.1:p.Val1622Phe
XM_017018293.1:c.5482G>T	XP_016873782.1:p.Val1828Phe
NM_001377.3:c.5482G>T MANE Select	NP_001368.2:p.Val1828Phe
NM_001080463.2:c.5482G>T MANE Plus Clinical	NP_001073932.1:p.Val1828Phe