Canonical Allele Identifier: CA343109935

Gene: SLC19A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169477265G>A , CM000663.2:g.169477265G>A	GRCh38
NC_000001.10:g.169446503G>A , CM000663.1:g.169446503G>A	GRCh37
NC_000001.9:g.167713127G>A	NCBI36
NG_008255.1:g.13706C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006996.3:c.697C>T MANE Select	NP_008927.1:p.Gln233Ter
ENST00000236137.10:c.697C>T MANE Select	ENSP00000236137.5:p.Gln233Ter
NM_001319667.1:c.205-7079C>T	NP_001306596.1:n.205-7079C>T
NM_006996.2:c.697C>T	NP_008927.1:p.Gln233Ter
ENST00000236137.9:c.697C>T	ENSP00000236137.5:p.Gln233Ter
ENST00000367804.4:c.205-7079C>T	ENSP00000356778.3:n.205-7079C>T
ENST00000646596.1:c.697C>T	ENSP00000494404.1:p.Gln233Ter
XM_011509076.1:c.505C>T	XP_011507378.1:p.Gln169Ter
XM_011509077.1:c.205-7079C>T	XP_011507379.1:n.205-7079C>T