Canonical Allele Identifier: CA382257951
Community Standard Title: NM_001377.3(DYNC2H1):c.8310T>G (p.Tyr2770Ter)
Gene: DYNC2H1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103203775T>G , CM000673.2:g.103203775T>G GRCh38
NC_000011.9:g.103074504T>G , CM000673.1:g.103074504T>G GRCh37
NC_000011.8:g.102579714T>G NCBI36
NG_016423.1:g.99345T>G
NG_016423.2:g.99345T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001377.3:c.8310T>G MANE Select NP_001368.2:p.Tyr2770Ter
ENST00000375735.7:c.8310T>G MANE Select ENSP00000364887.2:p.Tyr2770Ter
NM_001080463.2:c.8310T>G MANE Plus Clinical NP_001073932.1:p.Tyr2770Ter
ENST00000650373.2:c.8310T>G MANE Plus Clinical ENSP00000497174.1:p.Tyr2770Ter
NM_001080463.1:c.8310T>G NP_001073932.1:p.Tyr2770Ter
NM_001377.2:c.8310T>G NP_001368.2:p.Tyr2770Ter
ENST00000334267.11:c.2205+69356T>G ENSP00000334021.7:n.2205+69356T>G
ENST00000375735.6:c.8310T>G ENSP00000364887.2:p.Tyr2770Ter
ENST00000398093.7:c.8310T>G ENSP00000381167.3:p.Tyr2770Ter
ENST00000649323.1:c.*5834T>G ENSP00000497581.1:n.*5834T>G
ENST00000650373.1:c.8310T>G ENSP00000497174.1:p.Tyr2770Ter
XM_006718903.2:c.8289T>G XP_006718966.1:p.Tyr2763Ter
XM_017018291.1:c.8310T>G XP_016873780.1:p.Tyr2770Ter
XM_017018292.1:c.7692T>G XP_016873781.1:p.Tyr2564Ter