Canonical Allele Identifier: CA742353494
Gene:

Linked Data

dbSNP Id: rs550553272
gnomAD v4: 20-2470862-G-A
MyVariant Identifiers: chr20:g.2451508G>A (hg19) chr20:g.2470862G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470862G>A , CM000682.2:g.2470862G>A GRCh38
NC_000020.10:g.2451508G>A , CM000682.1:g.2451508G>A GRCh37
NC_000020.9:g.2399508G>A NCBI36
NG_042057.1:g.4992C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000461548.1:c.305-3104C>T ENSP00000456213.1:n.305-3104C>T
Search 100 bp 5'
Search 100 bp 3'