Canonical Allele Identifier: CA382247081

Gene: DYNC2H1

Linked Data

• gnomAD v4: 11-103179079-T-C
• MyVariant Identifiers: chr11:g.103049808T>C (hg19) ; chr11:g.103179079T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103179079T>C , CM000673.2:g.103179079T>C	GRCh38
NC_000011.9:g.103049808T>C , CM000673.1:g.103049808T>C	GRCh37
NC_000011.8:g.102555018T>C	NCBI36
NG_016423.1:g.74649T>C
NG_016423.2:g.74649T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000650373.2:c.6193T>C MANE Plus Clinical	ENSP00000497174.1:p.Ser2065Pro
ENST00000375735.7:c.6193T>C MANE Select	ENSP00000364887.2:p.Ser2065Pro
ENST00000649323.1:c.*3738T>C	ENSP00000497581.1:n.*3738T>C
ENST00000650373.1:c.6193T>C	ENSP00000497174.1:p.Ser2065Pro
ENST00000334267.11:c.2205+44660T>C	ENSP00000334021.7:n.2205+44660T>C
ENST00000375735.6:c.6193T>C	ENSP00000364887.2:p.Ser2065Pro
ENST00000398093.7:c.6193T>C	ENSP00000381167.3:p.Ser2065Pro
NM_001080463.1:c.6193T>C	NP_001073932.1:p.Ser2065Pro
NM_001377.2:c.6193T>C	NP_001368.2:p.Ser2065Pro
XM_006718903.2:c.6193T>C	XP_006718966.1:p.Ser2065Pro
XM_017018291.1:c.6193T>C	XP_016873780.1:p.Ser2065Pro
XM_017018292.1:c.5575T>C	XP_016873781.1:p.Ser1859Pro
XM_017018293.1:c.6193T>C	XP_016873782.1:p.Ser2065Pro
NM_001377.3:c.6193T>C MANE Select	NP_001368.2:p.Ser2065Pro
NM_001080463.2:c.6193T>C MANE Plus Clinical	NP_001073932.1:p.Ser2065Pro