Canonical Allele Identifier: CA15370344

Gene: BHMT2 DMGDH

Linked Data

• dbSNP Id: rs673752
• gnomAD v2: 5-78367092-T-C
• gnomAD v3: 5-79071269-T-C
• gnomAD v4: 5-79071269-T-C
• MyVariant Identifiers: chr5:g.78367092T>C (hg19) ; chr5:g.79071269T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79071269T>C , CM000667.2:g.79071269T>C	GRCh38
NC_000005.9:g.78367092T>C , CM000667.1:g.78367092T>C	GRCh37
NC_000005.8:g.78402848T>C	NCBI36
NG_012164.1:g.3358A>G
NG_029157.1:g.6546T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000255192.8:c.33+1454T>C (BHMT2) MANE Select	ENSP00000255192.3:n.33+1454T>C
ENST00000255192.7:c.33+1454T>C (BHMT2)	ENSP00000255192.3:n.33+1454T>C
ENST00000518666.5:c.-148+54T>C (BHMT2)	ENSP00000428640.1:n.-148+54T>C
ENST00000518758.1:n.48+1454T>C (BHMT2)
ENST00000519743.1:c.33+1454T>C (BHMT2)	ENSP00000430155.1:n.33+1454T>C
ENST00000520388.5:n.607-15361A>G (DMGDH)
ENST00000521567.1:c.33+1454T>C (BHMT2)	ENSP00000430278.1:n.33+1454T>C
ENST00000523472.1:n.40+1454T>C (BHMT2)
NM_001178005.1:c.33+1454T>C (BHMT2)	NP_001171476.1:n.33+1454T>C
NM_017614.4:c.33+1454T>C (BHMT2)	NP_060084.2:n.33+1454T>C
NM_017614.5:c.33+1454T>C (BHMT2) MANE Select	NP_060084.2:n.33+1454T>C
NM_001178005.2:c.33+1454T>C (BHMT2)	NP_001171476.1:n.33+1454T>C