Canonical Allele Identifier: CA11934271

Gene: BHMT2 DMGDH

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79085866A>C , CM000667.2:g.79085866A>C	GRCh38
NC_000005.9:g.78381689A>C , CM000667.1:g.78381689A>C	GRCh37
NC_000005.8:g.78417445A>C	NCBI36
NG_029157.1:g.21143A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255192.8:c.1010+2010A>C (BHMT2) MANE Select	ENSP00000255192.3:n.1010+2010A>C
ENST00000255192.7:c.1010+2010A>C (BHMT2)	ENSP00000255192.3:n.1010+2010A>C
ENST00000520388.5:n.606+18298T>G (DMGDH)
ENST00000521567.1:c.818+2010A>C (BHMT2)	ENSP00000430278.1:n.818+2010A>C
NM_001178005.1:c.818+2010A>C (BHMT2)	NP_001171476.1:n.818+2010A>C
NM_017614.4:c.1010+2010A>C (BHMT2)	NP_060084.2:n.1010+2010A>C
NM_017614.5:c.1010+2010A>C (BHMT2) MANE Select	NP_060084.2:n.1010+2010A>C
NM_001178005.2:c.818+2010A>C (BHMT2)	NP_001171476.1:n.818+2010A>C