Canonical Allele Identifier: CA000005

Gene: SLC5A2

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31484657C>A , CM000678.2:g.31484657C>A	GRCh38
NC_000016.9:g.31495978C>A , CM000678.1:g.31495978C>A	GRCh37
NC_000016.8:g.31403479C>A	NCBI36
NG_012892.1:g.6540C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330498.4:c.127-16C>A MANE Select	ENSP00000327943.3:n.127-16C>A
ENST00000330498.3:c.127-16C>A	ENSP00000327943.3:n.127-16C>A
ENST00000419665.6:c.127-16C>A	ENSP00000410601.2:n.127-16C>A
ENST00000562006.1:n.126-16C>A
ENST00000569576.5:c.-3-16C>A	ENSP00000455143.1:n.-3-16C>A
NM_003041.3:c.127-16C>A	NP_003032.1:n.127-16C>A
NR_130783.1:n.146-16C>A
XM_006721072.2:c.148-16C>A	XP_006721135.2:n.148-16C>A
XM_006721073.2:c.148-16C>A	XP_006721136.2:n.148-16C>A
XM_006721072.4:c.148-16C>A	XP_006721135.2:n.148-16C>A
XM_024450402.1:c.148-16C>A	XP_024306170.1:n.148-16C>A
NM_003041.4:c.127-16C>A MANE Select	NP_003032.1:n.127-16C>A
NR_130783.2:n.141-16C>A