Canonical Allele Identifier: CA2632887242

Gene: SLC5A2

Linked Data

• gnomAD v4: 16-31489105-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31489105G>T , CM000678.2:g.31489105G>T	GRCh38
NC_000016.9:g.31500426G>T , CM000678.1:g.31500426G>T	GRCh37
NC_000016.8:g.31407927G>T	NCBI36
NG_012892.1:g.10988G>T
NG_033149.1:g.24315C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330498.4:c.1450-18G>T MANE Select	ENSP00000327943.3:n.1450-18G>T
ENST00000330498.3:c.1450-18G>T	ENSP00000327943.3:n.1450-18G>T
ENST00000419665.6:c.1130-18G>T	ENSP00000410601.2:n.1130-18G>T
ENST00000568188.1:n.821-18G>T
ENST00000568891.1:n.282-18G>T
NM_003041.3:c.1450-18G>T	NP_003032.1:n.1450-18G>T
NR_130783.1:n.1149-18G>T
XM_006721072.2:c.1471-18G>T	XP_006721135.2:n.1471-18G>T
XM_006721073.2:c.1302-18G>T	XP_006721136.2:n.1302-18G>T
XM_006721072.4:c.1471-18G>T	XP_006721135.2:n.1471-18G>T
XM_024450402.1:c.1151-18G>T	XP_024306170.1:n.1151-18G>T
NM_003041.4:c.1450-18G>T MANE Select	NP_003032.1:n.1450-18G>T
NR_130783.2:n.1144-18G>T