Canonical Allele Identifier: CA280933
Gene: HNMT HGNC NCBI

Linked Data

ClinVar Variation Id: 219125
ClinVar RCV Id: RCV000203518
dbSNP Id: rs758252808
ExAC: 2:138727776 G / A
gnomAD v2: 2-138727776-G-A
gnomAD v4: 2-137970206-G-A
MyVariant Identifiers: chr2:g.138727776G>A (hg19) chr2:g.137970206G>A (hg38)
PubMed: PMID:26206890
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.137970206G>A , CM000664.2:g.137970206G>A GRCh38
NC_000002.11:g.138727776G>A , CM000664.1:g.138727776G>A GRCh37
NC_000002.10:g.138444246G>A NCBI36
NG_012966.1:g.10969G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000280097.5:c.179G>A MANE Select ENSP00000280097.3:p.Gly60Asp
ENST00000280097.4:c.179G>A ENSP00000280097.3:p.Gly60Asp
ENST00000329366.8:c.179G>A ENSP00000333259.4:p.Gly60Asp
ENST00000410115.5:c.179G>A ENSP00000386940.1:p.Gly60Asp
ENST00000467390.5:n.191G>A
ENST00000475675.5:c.*444G>A ENSP00000419415.1:n.*444G>A
ENST00000480534.1:n.157G>A
ENST00000485653.1:n.122+5578G>A
NM_001024075.1:c.179G>A NP_001019246.1:p.Gly60Asp
NM_006895.2:c.179G>A NP_008826.1:p.Gly60Asp
XM_011511063.1:c.77G>A XP_011509365.1:p.Gly26Asp
XM_011511064.1:c.-189+5578G>A XP_011509366.1:n.-189+5578G>A
XM_011511064.2:c.-189+5578G>A XP_011509366.1:n.-189+5578G>A
XM_017003948.1:c.77G>A XP_016859437.1:p.Gly26Asp
XM_017003949.2:c.179G>A XP_016859438.1:p.Gly60Asp
XR_002959286.1:n.566G>A
NM_006895.3:c.179G>A MANE Select NP_008826.1:p.Gly60Asp
NM_001024075.2:c.179G>A NP_001019246.1:p.Gly60Asp
NM_001024075.3:c.179G>A NP_001019246.1:p.Gly60Asp
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