Canonical Allele Identifier: CA1064219865

Gene: MTHFD2L

Linked Data

• dbSNP Id: rs16850864
• gnomAD v3: 4-74295107-C-G
• gnomAD v4: 4-74295107-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.74295107C>G , CM000666.2:g.74295107C>G	GRCh38
NC_000004.11:g.75160824C>G , CM000666.1:g.75160824C>G	GRCh37
NC_000004.10:g.75379688C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000325278.7:c.932-6590C>G MANE Select	ENSP00000321984.7:n.932-6590C>G
ENST00000359107.10:c.*783-6590C>G	ENSP00000352012.6:n.*783-6590C>G
ENST00000325278.6:c.758-6590C>G	ENSP00000321984.6:n.758-6590C>G
ENST00000395759.6:c.932-6590C>G	ENSP00000379108.2:n.932-6590C>G
ENST00000461856.5:n.300-6590C>G
ENST00000465255.5:n.330-6590C>G
ENST00000492183.5:n.2280-6590C>G
NM_001144978.1:c.932-6590C>G	NP_001138450.1:n.932-6590C>G
XM_005265690.1:c.831+1545C>G	XP_005265747.1:n.831+1545C>G
XM_011531979.1:c.1241-6590C>G	XP_011530281.1:n.1241-6590C>G
XM_011531980.1:c.1115-6590C>G	XP_011530282.1:n.1115-6590C>G
XR_938877.1:n.120-16329G>C
NM_001004346.3:c.758-6590C>G	NP_001004346.2:n.758-6590C>G
NM_001144978.2:c.932-6590C>G	NP_001138450.1:n.932-6590C>G
NM_001351314.1:c.551-6590C>G	NP_001338243.1:n.551-6590C>G
NR_147097.1:n.1095-6590C>G
XM_005265690.2:c.831+1545C>G	XP_005265747.1:n.831+1545C>G
XM_017008218.2:c.1314+1545C>G	XP_016863707.1:n.1314+1545C>G
XM_017008219.2:c.1115-6590C>G	XP_016863708.1:n.1115-6590C>G
XM_017008224.1:c.927+1545C>G	XP_016863713.1:n.927+1545C>G
XM_017008225.1:c.831+1545C>G	XP_016863714.1:n.831+1545C>G
XM_017008226.1:c.831+1545C>G	XP_016863715.1:n.831+1545C>G
XM_017008228.1:c.632-6590C>G	XP_016863717.1:n.632-6590C>G
XR_001741222.2:n.1431-6590C>G
XR_001741224.2:n.1437-6590C>G
XR_938877.2:n.126-16329G>C
NM_001004346.4:c.758-6590C>G	NP_001004346.2:n.758-6590C>G
NM_001351314.2:c.551-6590C>G	NP_001338243.1:n.551-6590C>G
NR_147097.2:n.1085-6590C>G
NM_001144978.3:c.932-6590C>G MANE Select	NP_001138450.1:n.932-6590C>G