Canonical Allele Identifier: CA2632887157

Gene: SLC5A2

Linked Data

• gnomAD v4: 16-31489059-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31489059C>T , CM000678.2:g.31489059C>T	GRCh38
NC_000016.9:g.31500380C>T , CM000678.1:g.31500380C>T	GRCh37
NC_000016.8:g.31407881C>T	NCBI36
NG_012892.1:g.10942C>T
NG_033149.1:g.24361G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330498.4:c.1449+11C>T MANE Select	ENSP00000327943.3:n.1449+11C>T
ENST00000330498.3:c.1449+11C>T	ENSP00000327943.3:n.1449+11C>T
ENST00000419665.6:c.1130-64C>T	ENSP00000410601.2:n.1130-64C>T
ENST00000568188.1:n.820+11C>T
ENST00000568891.1:n.282-64C>T
NM_003041.3:c.1449+11C>T	NP_003032.1:n.1449+11C>T
NR_130783.1:n.1149-64C>T
XM_006721072.2:c.1470+11C>T	XP_006721135.2:n.1470+11C>T
XM_006721073.2:c.1302-64C>T	XP_006721136.2:n.1302-64C>T
XM_006721072.4:c.1470+11C>T	XP_006721135.2:n.1470+11C>T
XM_024450402.1:c.1151-64C>T	XP_024306170.1:n.1151-64C>T
NM_003041.4:c.1449+11C>T MANE Select	NP_003032.1:n.1449+11C>T
NR_130783.2:n.1144-64C>T