Canonical Allele Identifier: CA2578548297
Gene: SLC17A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.25918627G>T , CM000668.2:g.25918627G>T GRCh38
NC_000006.11:g.25918855G>T , CM000668.1:g.25918855G>T GRCh37
NC_000006.10:g.26026834G>T NCBI36
NG_034000.1:g.17100C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000377850.8:c.563-54C>A MANE Select ENSP00000367081.3:n.563-54C>A
ENST00000265425.3:c.563-54C>A ENSP00000265425.3:n.563-54C>A
ENST00000360488.7:c.563-54C>A ENSP00000353677.3:n.563-54C>A
ENST00000377850.7:c.563-54C>A ENSP00000367081.3:n.563-54C>A
NM_001286123.1:c.563-54C>A NP_001273052.1:n.563-54C>A
NM_001286125.1:c.563-54C>A NP_001273054.1:n.563-54C>A
NM_005835.3:c.563-54C>A NP_005826.1:n.563-54C>A
XM_005248784.2:c.563-54C>A XP_005248841.1:n.563-54C>A
XM_006714949.2:c.563-54C>A XP_006715012.1:n.563-54C>A
XM_006714950.1:c.494-54C>A XP_006715013.1:n.494-54C>A
XM_006714951.1:c.563-54C>A XP_006715014.1:n.563-54C>A
XM_011514227.1:c.563-54C>A XP_011512529.1:n.563-54C>A
XM_006714949.3:c.563-54C>A XP_006715012.1:n.563-54C>A
XM_006714950.2:c.494-54C>A XP_006715013.1:n.494-54C>A
XM_017010159.1:c.494-54C>A XP_016865648.1:n.494-54C>A
XM_017010160.1:c.563-54C>A XP_016865649.1:n.563-54C>A
NM_001286123.3:c.563-54C>A MANE Select NP_001273052.1:n.563-54C>A
NM_001286125.2:c.563-54C>A NP_001273054.1:n.563-54C>A
NM_005835.4:c.563-54C>A NP_005826.1:n.563-54C>A