Canonical Allele Identifier: CA382262881

Gene: DYNC2H1

Linked Data

• MyVariant Identifiers: chr11:g.103091463G>C (hg19) ; chr11:g.103220734G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103220734G>C , CM000673.2:g.103220734G>C	GRCh38
NC_000011.9:g.103091463G>C , CM000673.1:g.103091463G>C	GRCh37
NC_000011.8:g.102596673G>C	NCBI36
NG_016423.1:g.116304G>C
NG_016423.2:g.116304G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.9058G>C MANE Plus Clinical	ENSP00000497174.1:p.Val3020Leu
ENST00000375735.7:c.9058G>C MANE Select	ENSP00000364887.2:p.Val3020Leu
ENST00000650373.1:c.9058G>C	ENSP00000497174.1:p.Val3020Leu
ENST00000334267.11:c.2205+86315G>C	ENSP00000334021.7:n.2205+86315G>C
ENST00000375735.6:c.9058G>C	ENSP00000364887.2:p.Val3020Leu
ENST00000398093.7:c.9058G>C	ENSP00000381167.3:p.Val3020Leu
NM_001080463.1:c.9058G>C	NP_001073932.1:p.Val3020Leu
NM_001377.2:c.9058G>C	NP_001368.2:p.Val3020Leu
XM_006718903.2:c.9037G>C	XP_006718966.1:p.Val3013Leu
XM_017018291.1:c.9058G>C	XP_016873780.1:p.Val3020Leu
XM_017018292.1:c.8440G>C	XP_016873781.1:p.Val2814Leu
NM_001377.3:c.9058G>C MANE Select	NP_001368.2:p.Val3020Leu
NM_001080463.2:c.9058G>C MANE Plus Clinical	NP_001073932.1:p.Val3020Leu