Canonical Allele Identifier: CA2217068742

Gene: SLC5A2

Linked Data

• dbSNP Id: rs2082493441
• gnomAD v4: 16-31486123-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31486123G>A , CM000678.2:g.31486123G>A	GRCh38
NC_000016.9:g.31497444G>A , CM000678.1:g.31497444G>A	GRCh37
NC_000016.8:g.31404945G>A	NCBI36
NG_012892.1:g.8006G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000330498.4:c.469-47G>A MANE Select	ENSP00000327943.3:n.469-47G>A
ENST00000330498.3:c.469-47G>A	ENSP00000327943.3:n.469-47G>A
ENST00000419665.6:c.469-47G>A	ENSP00000410601.2:n.469-47G>A
ENST00000565446.1:n.343-47G>A
ENST00000569576.5:c.340-47G>A	ENSP00000455143.1:n.340-47G>A
NM_003041.3:c.469-47G>A	NP_003032.1:n.469-47G>A
NR_130783.1:n.488-47G>A
XM_006721072.2:c.490-47G>A	XP_006721135.2:n.490-47G>A
XM_006721073.2:c.490-47G>A	XP_006721136.2:n.490-47G>A
XM_006721072.4:c.490-47G>A	XP_006721135.2:n.490-47G>A
XM_024450402.1:c.490-47G>A	XP_024306170.1:n.490-47G>A
NM_003041.4:c.469-47G>A MANE Select	NP_003032.1:n.469-47G>A
NR_130783.2:n.483-47G>A