Canonical Allele Identifier: CA360213064

Gene: BHMT2 DMGDH

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79079389T>C , CM000667.2:g.79079389T>C	GRCh38
NC_000005.9:g.78375212T>C , CM000667.1:g.78375212T>C	GRCh37
NC_000005.8:g.78410968T>C	NCBI36
NG_029157.1:g.14666T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255192.8:c.187T>C (BHMT2) MANE Select	ENSP00000255192.3:p.Phe63Leu
ENST00000255192.7:c.187T>C (BHMT2)	ENSP00000255192.3:p.Phe63Leu
ENST00000518666.5:c.7T>C (BHMT2)	ENSP00000428640.1:p.Phe3Leu
ENST00000518758.1:n.202T>C (BHMT2)
ENST00000519743.1:c.125T>C (BHMT2)	ENSP00000430155.1:p.Ile42Thr
ENST00000520388.5:n.607-23481A>G (DMGDH)
ENST00000521567.1:c.187T>C (BHMT2)	ENSP00000430278.1:p.Phe63Leu
NM_001178005.1:c.187T>C (BHMT2)	NP_001171476.1:p.Phe63Leu
NM_017614.4:c.187T>C (BHMT2)	NP_060084.2:p.Phe63Leu
NM_017614.5:c.187T>C (BHMT2) MANE Select	NP_060084.2:p.Phe63Leu
NM_001178005.2:c.187T>C (BHMT2)	NP_001171476.1:p.Phe63Leu