Canonical Allele Identifier: CA448981188
Gene: SLC17A2 HGNC NCBI

Linked Data

gnomAD v4: 6-25918530-T-C
MyVariant Identifiers: chr6:g.25918758T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.25918530T>C , CM000668.2:g.25918530T>C GRCh38
NC_000006.11:g.25918758T>C , CM000668.1:g.25918758T>C GRCh37
NC_000006.10:g.26026737T>C NCBI36
NG_034000.1:g.17197A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000377850.8:c.606A>G MANE Select ENSP00000367081.3:p.Leu202=
ENST00000265425.3:c.606A>G ENSP00000265425.3:p.Leu202=
ENST00000360488.7:c.606A>G ENSP00000353677.3:p.Leu202=
ENST00000377850.7:c.606A>G ENSP00000367081.3:p.Leu202=
NM_001286123.1:c.606A>G NP_001273052.1:p.Leu202=
NM_001286125.1:c.606A>G NP_001273054.1:p.Leu202=
NM_005835.3:c.606A>G NP_005826.1:p.Leu202=
XM_005248784.2:c.606A>G XP_005248841.1:p.Leu202=
XM_006714949.2:c.606A>G XP_006715012.1:p.Leu202=
XM_006714950.1:c.537A>G XP_006715013.1:p.Leu179=
XM_006714951.1:c.606A>G XP_006715014.1:p.Leu202=
XM_011514227.1:c.606A>G XP_011512529.1:p.Leu202=
XM_006714949.3:c.606A>G XP_006715012.1:p.Leu202=
XM_006714950.2:c.537A>G XP_006715013.1:p.Leu179=
XM_017010159.1:c.537A>G XP_016865648.1:p.Leu179=
XM_017010160.1:c.606A>G XP_016865649.1:p.Leu202=
NM_001286123.3:c.606A>G MANE Select NP_001273052.1:p.Leu202=
NM_001286125.2:c.606A>G NP_001273054.1:p.Leu202=
NM_005835.4:c.606A>G NP_005826.1:p.Leu202=