Canonical Allele Identifier: CA2632886881

Gene: SLC5A2

Linked Data

• gnomAD v4: 16-31488943-G-GGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31488946_31488948dup , CM000678.2:g.31488946_31488948dup	GRCh38
NC_000016.9:g.31500267_31500269dup , CM000678.1:g.31500267_31500269dup	GRCh37
NC_000016.8:g.31407768_31407770dup	NCBI36
NG_012892.1:g.10829_10831dup
NG_033149.1:g.24474_24476dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000330498.4:c.1347_1349dup MANE Select	ENSP00000327943.3:p.Gly450_Gln451insGly
ENST00000330498.3:c.1347_1349dup	ENSP00000327943.3:p.Gly450_Gln451insGly
ENST00000419665.6:c.1130-177_1130-175dup	ENSP00000410601.2:n.1130-177_1130-175dup
ENST00000568188.1:n.718_720dup
ENST00000568891.1:n.282-177_282-175dup
NM_003041.3:c.1347_1349dup	NP_003032.1:p.Gly450_Gln451insGly
NR_130783.1:n.1149-177_1149-175dup
XM_006721072.2:c.1368_1370dup	XP_006721135.2:p.Gly457_Gln458insGly
XM_006721073.2:c.1301+174_1302-175dup	XP_006721136.2:n.1301+174_1302-175dup
XM_006721072.4:c.1368_1370dup	XP_006721135.2:p.Gly457_Gln458insGly
XM_024450402.1:c.1151-177_1151-175dup	XP_024306170.1:n.1151-177_1151-175dup
NM_003041.4:c.1347_1349dup MANE Select	NP_003032.1:p.Gly450_Gln451insGly
NR_130783.2:n.1144-177_1144-175dup