Canonical Allele Identifier: CA57014316

Gene: HNMT

Linked Data

• dbSNP Id: rs943735171
• gnomAD v2: 2-138759577-TG-T
• gnomAD v3: 2-138002007-TG-T
• gnomAD v4: 2-138002007-TG-T
• MyVariant Identifiers: chr2:g.138759578del (hg19) ; chr2:g.138002008del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.138002009del , CM000664.2:g.138002009del	GRCh38
NC_000002.11:g.138759579del , CM000664.1:g.138759579del	GRCh37
NC_000002.10:g.138476049del	NCBI36
NG_012966.1:g.42772del

Transcript Alleles

HGVS	Amino-acid change
ENST00000280097.5:c.299-55del MANE Select	ENSP00000280097.3:n.299-55del
ENST00000280097.4:c.299-55del	ENSP00000280097.3:n.299-55del
ENST00000410115.5:c.299-55del	ENSP00000386940.1:n.299-55del
ENST00000467390.5:n.311-55del
ENST00000485653.1:n.231-55del
NM_006895.2:c.299-55del	NP_008826.1:n.299-55del
XM_011511063.1:c.197-55del	XP_011509365.1:n.197-55del
XM_011511064.1:c.-80-55del	XP_011509366.1:n.-80-55del
XM_011511064.2:c.-80-55del	XP_011509366.1:n.-80-55del
XM_017003948.1:c.197-55del	XP_016859437.1:n.197-55del
XM_017003949.2:c.299-55del	XP_016859438.1:n.299-55del
XR_001739719.1:n.1039+4981del
XR_002959286.1:n.686-55del
NM_006895.3:c.299-55del MANE Select	NP_008826.1:n.299-55del