Canonical Allele Identifier: CA16043453

Gene: DYNC2H1

Linked Data

• ClinVar Variation Id: 374100
• ClinVar RCV Id: RCV000415006
• dbSNP Id: rs1057518898
• gnomAD v4: 11-103256241-G-A
• MyVariant Identifiers: chr11:g.103126970G>A (hg19) ; chr11:g.103256241G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103256241G>A , CM000673.2:g.103256241G>A	GRCh38
NC_000011.9:g.103126970G>A , CM000673.1:g.103126970G>A	GRCh37
NC_000011.8:g.102632180G>A	NCBI36
NG_016423.1:g.151811G>A
NG_016423.2:g.151811G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650373.2:c.10482+1G>A MANE Plus Clinical	ENSP00000497174.1:n.10482+1G>A
ENST00000375735.7:c.10461+1G>A MANE Select	ENSP00000364887.2:n.10461+1G>A
ENST00000650373.1:c.10482+1G>A	ENSP00000497174.1:n.10482+1G>A
ENST00000334267.11:c.2205+121822G>A	ENSP00000334021.7:n.2205+121822G>A
ENST00000375735.6:c.10461+1G>A	ENSP00000364887.2:n.10461+1G>A
ENST00000398093.7:c.10482+1G>A	ENSP00000381167.3:n.10482+1G>A
NM_001080463.1:c.10482+1G>A	NP_001073932.1:n.10482+1G>A
NM_001377.2:c.10461+1G>A	NP_001368.2:n.10461+1G>A
XM_006718903.2:c.10440+1G>A	XP_006718966.1:n.10440+1G>A
XM_017018291.1:c.10461+1G>A	XP_016873780.1:n.10461+1G>A
XM_017018292.1:c.9843+1G>A	XP_016873781.1:n.9843+1G>A
NM_001377.3:c.10461+1G>A MANE Select	NP_001368.2:n.10461+1G>A
NM_001080463.2:c.10482+1G>A MANE Plus Clinical	NP_001073932.1:n.10482+1G>A