Canonical Allele Identifier: CA2649031502
Gene: SLC19A2 HGNC NCBI

Linked Data

gnomAD v4: 1-169485525-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169485525C>G , CM000663.2:g.169485525C>G GRCh38
NC_000001.10:g.169454763C>G , CM000663.1:g.169454763C>G GRCh37
NC_000001.9:g.167721387C>G NCBI36
NG_008255.1:g.5446G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000236137.10:c.204+38G>C MANE Select ENSP00000236137.5:n.204+38G>C
ENST00000646596.1:c.204+38G>C ENSP00000494404.1:n.204+38G>C
ENST00000236137.9:c.204+38G>C ENSP00000236137.5:n.204+38G>C
ENST00000367804.4:c.204+38G>C ENSP00000356778.3:n.204+38G>C
NM_006996.2:c.204+38G>C NP_008927.1:n.204+38G>C
XM_011509076.1:c.12+528G>C XP_011507378.1:n.12+528G>C
XM_011509077.1:c.204+38G>C XP_011507379.1:n.204+38G>C
NM_001319667.1:c.204+38G>C NP_001306596.1:n.204+38G>C
NM_006996.3:c.204+38G>C MANE Select NP_008927.1:n.204+38G>C
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