Canonical Allele Identifier: CA8031110

Gene: SLC5A2

Linked Data

• dbSNP Id: rs768392222
• ExAC: 16:31500266 G / A
• gnomAD v2: 16-31500266-G-A
• gnomAD v4: 16-31488945-G-A
• MyVariant Identifiers: chr16:g.31500266G>A (hg19) ; chr16:g.31488945G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31488945G>A , CM000678.2:g.31488945G>A	GRCh38
NC_000016.9:g.31500266G>A , CM000678.1:g.31500266G>A	GRCh37
NC_000016.8:g.31407767G>A	NCBI36
NG_012892.1:g.10828G>A
NG_033149.1:g.24475C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000330498.4:c.1346G>A MANE Select	ENSP00000327943.3:p.Gly449Asp
ENST00000330498.3:c.1346G>A	ENSP00000327943.3:p.Gly449Asp
ENST00000419665.6:c.1130-178G>A	ENSP00000410601.2:n.1130-178G>A
ENST00000568188.1:n.717G>A
ENST00000568891.1:n.282-178G>A
NM_003041.3:c.1346G>A	NP_003032.1:p.Gly449Asp
NR_130783.1:n.1149-178G>A
XM_006721072.2:c.1367G>A	XP_006721135.2:p.Gly456Asp
XM_006721073.2:c.1301+173G>A	XP_006721136.2:n.1301+173G>A
XM_006721072.4:c.1367G>A	XP_006721135.2:p.Gly456Asp
XM_024450402.1:c.1151-178G>A	XP_024306170.1:n.1151-178G>A
NM_003041.4:c.1346G>A MANE Select	NP_003032.1:p.Gly449Asp
NR_130783.2:n.1144-178G>A