Canonical Allele Identifier: CA397925948

Gene: DNAH2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7824286C>T , CM000679.2:g.7824286C>T	GRCh38
NC_000017.10:g.7727604C>T , CM000679.1:g.7727604C>T	GRCh37
NC_000017.9:g.7668329C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_020877.5:c.11644C>T MANE Select	NP_065928.2:p.Arg3882Ter
ENST00000572933.6:c.11644C>T MANE Select	ENSP00000458355.1:p.Arg3882Ter
NM_020877.3:c.11644C>T	NP_065928.2:p.Arg3882Ter
NM_020877.4:c.11644C>T	NP_065928.2:p.Arg3882Ter
ENST00000389173.6:c.11644C>T	ENSP00000373825.2:p.Arg3882Ter
ENST00000572933.5:c.11644C>T	ENSP00000458355.1:p.Arg3882Ter
ENST00000575105.1:c.2491C>T	ENSP00000461726.1:p.Arg831Ter
XM_011523663.1:c.11890C>T	XP_011521965.1:p.Arg3964Ter
XM_011523664.1:c.11890C>T	XP_011521966.1:p.Arg3964Ter
XM_011523665.1:c.11722C>T	XP_011521967.1:p.Arg3908Ter
XM_011523666.1:c.11701C>T	XP_011521968.1:p.Arg3901Ter
XM_011523667.1:c.11644C>T	XP_011521969.1:p.Arg3882Ter
XM_011523667.2:c.11644C>T	XP_011521969.1:p.Arg3882Ter
XM_011523668.1:c.10282C>T	XP_011521970.1:p.Arg3428Ter
XM_011523669.1:c.9886C>T	XP_011521971.1:p.Arg3296Ter
XM_024450604.1:c.11890C>T	XP_024306372.1:p.Arg3964Ter
XM_024450605.1:c.11890C>T	XP_024306373.1:p.Arg3964Ter
XM_024450606.1:c.11701C>T	XP_024306374.1:p.Arg3901Ter
XM_024450607.1:c.11644C>T	XP_024306375.1:p.Arg3882Ter
XM_024450608.1:c.10282C>T	XP_024306376.1:p.Arg3428Ter
XM_024450609.1:c.9895C>T	XP_024306377.1:p.Arg3299Ter
XM_024450610.1:c.9886C>T	XP_024306378.1:p.Arg3296Ter