Canonical Allele Identifier: CA1233007

Gene: SLC19A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169477166C>T , CM000663.2:g.169477166C>T	GRCh38
NC_000001.10:g.169446404C>T , CM000663.1:g.169446404C>T	GRCh37
NC_000001.9:g.167713028C>T	NCBI36
NG_008255.1:g.13805G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006996.3:c.796G>A MANE Select	NP_008927.1:p.Val266Met
ENST00000236137.10:c.796G>A MANE Select	ENSP00000236137.5:p.Val266Met
NM_001319667.1:c.205-6980G>A	NP_001306596.1:n.205-6980G>A
NM_006996.2:c.796G>A	NP_008927.1:p.Val266Met
ENST00000236137.9:c.796G>A	ENSP00000236137.5:p.Val266Met
ENST00000367804.4:c.205-6980G>A	ENSP00000356778.3:n.205-6980G>A
ENST00000646596.1:c.796G>A	ENSP00000494404.1:p.Val266Met
XM_011509076.1:c.604G>A	XP_011507378.1:p.Val202Met
XM_011509077.1:c.205-6980G>A	XP_011507379.1:n.205-6980G>A