Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA104693458

Gene: FABP2 HGNC NCBI

Linked Data

dbSNP Id: rs1799883

gnomAD v4: 4-119320747-T-A

MyVariant Identifiers: chr4:g.120241902T>A (hg19) chr4:g.119320747T>A (hg38)

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119320747T>A , CM000666.2:g.119320747T>A	GRCh38
NC_000004.11:g.120241902T>A , CM000666.1:g.120241902T>A	GRCh37
NC_000004.10:g.120461350T>A	NCBI36
NG_011444.1:g.6415A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000274024.4:c.163A>T MANE Select	ENSP00000274024.3:p.Thr55Ser
ENST00000274024.3:c.163A>T	ENSP00000274024.3:p.Thr55Ser
NM_000134.3:c.163A>T	NP_000125.2:p.Thr55Ser
NM_000134.4:c.163A>T MANE Select	NP_000125.2:p.Thr55Ser

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