Allele Registry

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.

Canonical Allele Identifier: CA60947788

Gene: TTN-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs72629799

gnomAD v2: 2-179390681-A-C

gnomAD v3: 2-178525954-A-C

gnomAD v4: 2-178525954-A-C

MyVariant Identifiers: chr2:g.179390681A>C (hg19) chr2:g.178525954A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178525954A>C , CM000664.2:g.178525954A>C	GRCh38
NC_000002.11:g.179390681A>C , CM000664.1:g.179390681A>C	GRCh37
NC_000002.10:g.179098927A>C	NCBI36
NG_011618.3:g.309849T>G , LRG_391:g.309849T>G
NG_051363.1:g.8128A>C

Transcript Alleles

HGVS	Amino-acid change
NR_038271.1:n.446+2318A>C
NR_038272.1:n.219+2318A>C

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