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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA406709150
Gene: SULT2B1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr19:g.49090641T>C (hg19)
chr19:g.48587384T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.48587384T>C , CM000681.2:g.48587384T>C
GRCh38
NC_000019.9:g.49090641T>C , CM000681.1:g.49090641T>C
GRCh37
NC_000019.8:g.53782453T>C
NCBI36
NG_029063.1:g.40213T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000201586.7:c.370T>C
MANE Select
ENSP00000201586.2:p.Ser124Pro
ENST00000201586.6:c.370T>C
ENSP00000201586.1:p.Ser124Pro
ENST00000323090.4:c.325T>C
ENSP00000312880.3:p.Ser109Pro
NM_004605.2:c.325T>C
NP_004596.2:p.Ser109Pro
NM_177973.1:c.370T>C
NP_814444.1:p.Ser124Pro
NM_177973.2:c.370T>C
MANE Select
NP_814444.1:p.Ser124Pro
Search 100 bp 5'
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