Canonical Allele Identifier: CA287484465

Gene: DNAH2

Linked Data

• dbSNP Id: rs913237736
• gnomAD v3: 17-7729981-G-C
• gnomAD v4: 17-7729981-G-C
• MyVariant Identifiers: chr17:g.7633299G>C (hg19) ; chr17:g.7729981G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7729981G>C , CM000679.2:g.7729981G>C	GRCh38
NC_000017.10:g.7633299G>C , CM000679.1:g.7633299G>C	GRCh37
NC_000017.9:g.7574024G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000572933.6:c.399+2689G>C MANE Select	ENSP00000458355.1:n.399+2689G>C
ENST00000389173.6:c.399+2689G>C	ENSP00000373825.2:n.399+2689G>C
ENST00000570791.5:c.399+2689G>C	ENSP00000460245.1:n.399+2689G>C
ENST00000572933.5:c.399+2689G>C	ENSP00000458355.1:n.399+2689G>C
NM_001303270.1:c.399+2689G>C	NP_001290199.1:n.399+2689G>C
NM_020877.3:c.399+2689G>C	NP_065928.2:n.399+2689G>C
XM_011523663.1:c.399+2689G>C	XP_011521965.1:n.399+2689G>C
XM_011523664.1:c.399+2689G>C	XP_011521966.1:n.399+2689G>C
XM_011523665.1:c.399+2689G>C	XP_011521967.1:n.399+2689G>C
XM_011523666.1:c.399+2689G>C	XP_011521968.1:n.399+2689G>C
XM_011523667.1:c.399+2689G>C	XP_011521969.1:n.399+2689G>C
XM_011523670.1:c.399+2689G>C	XP_011521972.1:n.399+2689G>C
XM_011523667.2:c.399+2689G>C	XP_011521969.1:n.399+2689G>C
XM_011523670.2:c.399+2689G>C	XP_011521972.1:n.399+2689G>C
XM_017024219.1:c.399+2689G>C	XP_016879708.1:n.399+2689G>C
XM_024450604.1:c.399+2689G>C	XP_024306372.1:n.399+2689G>C
XM_024450605.1:c.399+2689G>C	XP_024306373.1:n.399+2689G>C
XM_024450606.1:c.399+2689G>C	XP_024306374.1:n.399+2689G>C
XM_024450607.1:c.399+2689G>C	XP_024306375.1:n.399+2689G>C
NM_001303270.2:c.399+2689G>C	NP_001290199.1:n.399+2689G>C
NM_020877.4:c.399+2689G>C	NP_065928.2:n.399+2689G>C
NM_020877.5:c.399+2689G>C MANE Select	NP_065928.2:n.399+2689G>C