Canonical Allele Identifier: CA16618643
Gene: SLC20A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 422286
ClinVar RCV Id: RCV000485134
dbSNP Id: rs1064795684
MyVariant Identifiers: chr8:g.42294722G>C (hg19) chr8:g.42437204G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42437204G>C , CM000670.2:g.42437204G>C GRCh38
NC_000008.10:g.42294722G>C , CM000670.1:g.42294722G>C GRCh37
NC_000008.9:g.42413879G>C NCBI36
NG_032161.1:g.107635C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000520262.6:c.1308C>G MANE Select ENSP00000429754.1:p.Tyr436Ter
ENST00000342228.7:c.1308C>G ENSP00000340465.3:p.Tyr436Ter
ENST00000520179.5:c.1308C>G ENSP00000429712.1:p.Tyr436Ter
ENST00000520262.5:c.1308C>G ENSP00000429754.1:p.Tyr436Ter
NM_001257180.1:c.1308C>G NP_001244109.1:p.Tyr436Ter
NM_001257181.1:c.1308C>G NP_001244110.1:p.Tyr436Ter
NM_006749.4:c.1308C>G NP_006740.1:p.Tyr436Ter
XM_005273613.2:c.1308C>G XP_005273670.1:p.Tyr436Ter
XM_005273615.2:c.1308C>G XP_005273672.1:p.Tyr436Ter
XM_006716390.2:c.1167C>G XP_006716453.1:p.Tyr389Ter
XM_006716391.2:c.897C>G XP_006716454.1:p.Tyr299Ter
XM_005273613.4:c.1308C>G XP_005273670.1:p.Tyr436Ter
XM_005273615.4:c.1308C>G XP_005273672.1:p.Tyr436Ter
XM_006716390.4:c.1167C>G XP_006716453.1:p.Tyr389Ter
XM_006716391.4:c.897C>G XP_006716454.1:p.Tyr299Ter
XM_017013748.1:c.1308C>G XP_016869237.1:p.Tyr436Ter
XM_017013749.2:c.1167C>G XP_016869238.1:p.Tyr389Ter
XM_017013750.2:c.897C>G XP_016869239.1:p.Tyr299Ter
XM_017013751.2:c.897C>G XP_016869240.1:p.Tyr299Ter
XM_017013752.2:c.897C>G XP_016869241.1:p.Tyr299Ter
XM_024447235.1:c.1308C>G XP_024303003.1:p.Tyr436Ter
XM_024447236.1:c.1308C>G XP_024303004.1:p.Tyr436Ter
XM_024447237.1:c.1167C>G XP_024303005.1:p.Tyr389Ter
NM_001257180.2:c.1308C>G MANE Select NP_001244109.1:p.Tyr436Ter
NM_006749.5:c.1308C>G NP_006740.1:p.Tyr436Ter
NM_001257181.2:c.1308C>G NP_001244110.1:p.Tyr436Ter
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