Canonical Allele Identifier: CA476608164

Gene: DYNC2H1

Linked Data

• ClinVar Variation Id: 3004341
• ClinVar RCV Id: RCV003865980
• gnomAD v4: 11-103125208-T-C
• MyVariant Identifiers: chr11:g.102995937T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103125208T>C , CM000673.2:g.103125208T>C	GRCh38
NC_000011.9:g.102995937T>C , CM000673.1:g.102995937T>C	GRCh37
NC_000011.8:g.102501147T>C	NCBI36
NG_016423.1:g.20778T>C
NG_016423.2:g.20778T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000650373.2:c.1770T>C MANE Plus Clinical	ENSP00000497174.1:p.Ser590=
ENST00000375735.7:c.1770T>C MANE Select	ENSP00000364887.2:p.Ser590=
ENST00000648198.1:c.1770T>C	ENSP00000497329.1:p.Ser590=
ENST00000649323.1:c.1770T>C	ENSP00000497581.1:p.Ser590=
ENST00000650373.1:c.1770T>C	ENSP00000497174.1:p.Ser590=
ENST00000334267.11:c.1770T>C	ENSP00000334021.7:p.Ser590=
ENST00000375735.6:c.1770T>C	ENSP00000364887.2:p.Ser590=
ENST00000398093.7:c.1770T>C	ENSP00000381167.3:p.Ser590=
NM_001080463.1:c.1770T>C	NP_001073932.1:p.Ser590=
NM_001377.2:c.1770T>C	NP_001368.2:p.Ser590=
XM_006718903.2:c.1770T>C	XP_006718966.1:p.Ser590=
XM_017018291.1:c.1770T>C	XP_016873780.1:p.Ser590=
XM_017018292.1:c.1152T>C	XP_016873781.1:p.Ser384=
XM_017018293.1:c.1770T>C	XP_016873782.1:p.Ser590=
NM_001377.3:c.1770T>C MANE Select	NP_001368.2:p.Ser590=
NM_001080463.2:c.1770T>C MANE Plus Clinical	NP_001073932.1:p.Ser590=