Canonical Allele Identifier: CA360218901
Gene: BHMT2 HGNC NCBI
DMGDH HGNC NCBI
ClinVar RCV:
RCV004299734
ClinVar Variation:
2532304
dbSNP:
1317084891
gnomAD v2:
5:78379463 G / T
gnomAD v4:
chr5-79083640-G-T
Joint Max Group AF 0.00000124 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
MyVariant.info:
GRCh38 chr5:g.79083640G>T
GRCh37 chr5:g.78379463G>T
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79083640G>T , CM000667.2:g.79083640G>T GRCh38
NC_000005.9:g.78379463G>T , CM000667.1:g.78379463G>T GRCh37
NC_000005.8:g.78415219G>T NCBI36
NG_029157.1:g.18917G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255192.8:c.794G>T (BHMT2) MANE Select ENSP00000255192.3:p.Arg265Ile
ENST00000255192.7:c.794G>T (BHMT2) ENSP00000255192.3:p.Arg265Ile
ENST00000520388.5:n.606+20524C>A (DMGDH)
ENST00000521567.1:c.602G>T (BHMT2) ENSP00000430278.1:p.Arg201Ile
NM_001178005.1:c.602G>T (BHMT2) NP_001171476.1:p.Arg201Ile
NM_017614.4:c.794G>T (BHMT2) NP_060084.2:p.Arg265Ile
NM_017614.5:c.794G>T (BHMT2) MANE Select NP_060084.2:p.Arg265Ile
NM_001178005.2:c.602G>T (BHMT2) NP_001171476.1:p.Arg201Ile
Search 100 bp 5'
Search 100 bp 3'