Canonical Allele Identifier: CA382289664

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103455297T>C , CM000673.2:g.103455297T>C	GRCh38
NC_000011.9:g.103326025T>C , CM000673.1:g.103326025T>C	GRCh37
NC_000011.8:g.102831235T>C	NCBI36
NG_016423.1:g.350866T>C
NG_016423.2:g.350867T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.12566+2T>C MANE Select	NP_001368.2:n.12566+2T>C
ENST00000375735.7:c.12566+2T>C MANE Select	ENSP00000364887.2:n.12566+2T>C
NM_001080463.2:c.12587+2T>C MANE Plus Clinical	NP_001073932.1:n.12587+2T>C
ENST00000650373.2:c.12587+2T>C MANE Plus Clinical	ENSP00000497174.1:n.12587+2T>C
NM_001080463.1:c.12587+2T>C	NP_001073932.1:n.12587+2T>C
NM_001377.2:c.12566+2T>C	NP_001368.2:n.12566+2T>C
ENST00000334267.11:c.2405+2T>C	ENSP00000334021.7:n.2405+2T>C
ENST00000375735.6:c.12566+2T>C	ENSP00000364887.2:n.12566+2T>C
ENST00000398093.7:c.12587+2T>C	ENSP00000381167.3:n.12587+2T>C
ENST00000528670.5:c.1749+2T>C	ENSP00000433451.1:n.1749+2T>C
ENST00000530547.1:n.297+2T>C
ENST00000533197.1:c.317+2T>C	ENSP00000436736.1:n.317+2T>C
ENST00000650373.1:c.12587+2T>C	ENSP00000497174.1:n.12587+2T>C
XM_006718903.2:c.12545+2T>C	XP_006718966.1:n.12545+2T>C
XM_017018291.1:c.12356+2T>C	XP_016873780.1:n.12356+2T>C
XM_017018292.1:c.11948+2T>C	XP_016873781.1:n.11948+2T>C