Canonical Allele Identifier: CA3518600
Community Standard Title: NM_181776.3(SLC36A2):c.1181-5T>C
Gene: SLC36A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151317093A>G , CM000667.2:g.151317093A>G GRCh38
NC_000005.9:g.150696654A>G , CM000667.1:g.150696654A>G GRCh37
NC_000005.8:g.150676847A>G NCBI36
NG_027745.1:g.35498T>C

Transcript Alleles

HGVS Amino-acid Change
NM_181776.3:c.1181-5T>C MANE Select NP_861441.2:n.1181-5T>C
ENST00000335244.9:c.1181-5T>C MANE Select ENSP00000334223.4:n.1181-5T>C
NM_181776.2:c.1181-5T>C NP_861441.2:n.1181-5T>C
ENST00000335244.8:c.1181-5T>C ENSP00000334223.4:n.1181-5T>C
ENST00000518280.5:c.*652-5T>C ENSP00000428453.1:n.*652-5T>C
ENST00000518617.5:c.*749-5T>C ENSP00000430149.1:n.*749-5T>C
XM_006714756.2:c.1082-5T>C XP_006714819.1:n.1082-5T>C
XM_006714756.4:c.1082-5T>C XP_006714819.1:n.1082-5T>C
XM_017009084.1:c.587-5T>C XP_016864573.1:n.587-5T>C