Canonical Allele Identifier: CA494936197

Gene: SLC5A2

Linked Data

• gnomAD v4: 16-31488967-C-T
• MyVariant Identifiers: chr16:g.31500288C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31488967C>T , CM000678.2:g.31488967C>T	GRCh38
NC_000016.9:g.31500288C>T , CM000678.1:g.31500288C>T	GRCh37
NC_000016.8:g.31407789C>T	NCBI36
NG_012892.1:g.10850C>T
NG_033149.1:g.24453G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330498.4:c.1368C>T MANE Select	ENSP00000327943.3:p.Ile456=
ENST00000330498.3:c.1368C>T	ENSP00000327943.3:p.Ile456=
ENST00000419665.6:c.1130-156C>T	ENSP00000410601.2:n.1130-156C>T
ENST00000568188.1:n.739C>T
ENST00000568891.1:n.282-156C>T
NM_003041.3:c.1368C>T	NP_003032.1:p.Ile456=
NR_130783.1:n.1149-156C>T
XM_006721072.2:c.1389C>T	XP_006721135.2:p.Ile463=
XM_006721073.2:c.1302-156C>T	XP_006721136.2:n.1302-156C>T
XM_006721072.4:c.1389C>T	XP_006721135.2:p.Ile463=
XM_024450402.1:c.1151-156C>T	XP_024306170.1:n.1151-156C>T
NM_003041.4:c.1368C>T MANE Select	NP_003032.1:p.Ile456=
NR_130783.2:n.1144-156C>T