Canonical Allele Identifier: CA382243027

Gene: DYNC2H1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.5482G>C MANE Plus Clinical	ENSP00000497174.1:p.Val1828Leu
ENST00000375735.7:c.5482G>C MANE Select	ENSP00000364887.2:p.Val1828Leu
ENST00000649323.1:c.*3027G>C	ENSP00000497581.1:n.*3027G>C
ENST00000650373.1:c.5482G>C	ENSP00000497174.1:p.Val1828Leu
ENST00000334267.11:c.2205+38810G>C	ENSP00000334021.7:n.2205+38810G>C
ENST00000375735.6:c.5482G>C	ENSP00000364887.2:p.Val1828Leu
ENST00000398093.7:c.5482G>C	ENSP00000381167.3:p.Val1828Leu
NM_001080463.1:c.5482G>C	NP_001073932.1:p.Val1828Leu
NM_001377.2:c.5482G>C	NP_001368.2:p.Val1828Leu
XM_006718903.2:c.5482G>C	XP_006718966.1:p.Val1828Leu
XM_017018291.1:c.5482G>C	XP_016873780.1:p.Val1828Leu
XM_017018292.1:c.4864G>C	XP_016873781.1:p.Val1622Leu
XM_017018293.1:c.5482G>C	XP_016873782.1:p.Val1828Leu
NM_001377.3:c.5482G>C MANE Select	NP_001368.2:p.Val1828Leu
NM_001080463.2:c.5482G>C MANE Plus Clinical	NP_001073932.1:p.Val1828Leu