Canonical Allele Identifier: CA343112124
Gene: SLC19A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169485591C>A , CM000663.2:g.169485591C>A GRCh38
NC_000001.10:g.169454829C>A , CM000663.1:g.169454829C>A GRCh37
NC_000001.9:g.167721453C>A NCBI36
NG_008255.1:g.5380G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000236137.10:c.176G>T MANE Select ENSP00000236137.5:p.Gly59Val
ENST00000646596.1:c.176G>T ENSP00000494404.1:p.Gly59Val
ENST00000236137.9:c.176G>T ENSP00000236137.5:p.Gly59Val
ENST00000367804.4:c.176G>T ENSP00000356778.3:p.Gly59Val
NM_006996.2:c.176G>T NP_008927.1:p.Gly59Val
XM_011509076.1:c.12+462G>T XP_011507378.1:n.12+462G>T
XM_011509077.1:c.176G>T XP_011507379.1:p.Gly59Val
NM_001319667.1:c.176G>T NP_001306596.1:p.Gly59Val
NM_006996.3:c.176G>T MANE Select NP_008927.1:p.Gly59Val