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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:
CA254202
Gene: MATN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7540
ClinVar RCV Id:
RCV000007976
RCV002054422
dbSNP Id:
rs104893645
MyVariant Identifiers:
chr2:g.20205714A>T (hg19)
chr2:g.20005953A>T (hg38)
PubMed:
PMID:11479597
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.20005953A>T , CM000664.2:g.20005953A>T
GRCh38
NC_000002.11:g.20205714A>T , CM000664.1:g.20205714A>T
GRCh37
NC_000002.10:g.20069195A>T
NCBI36
NG_008087.1:g.11742T>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000407540.8:c.581T>A
MANE Select
ENSP00000383894.3:p.Val194Asp
ENST00000407540.7:c.581T>A
ENSP00000383894.3:p.Val194Asp
ENST00000421259.2:c.581T>A
ENSP00000398753.2:p.Val194Asp
NM_002381.4:c.581T>A
NP_002372.1:p.Val194Asp
NM_002381.5:c.581T>A
MANE Select
NP_002372.1:p.Val194Asp
Search 100 bp 5'
Search 100 bp 3'