Canonical Allele Identifier: CA11420527
Gene: COL6A4P2 HGNC NCBI

Linked Data

dbSNP Id: rs9813712
gnomAD v2: 3-129971101-T-A
gnomAD v3: 3-130252258-T-A
gnomAD v4: 3-130252258-T-A
MyVariant Identifiers: chr3:g.129971101T>A (hg19) chr3:g.130252258T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.130252258T>A , CM000665.2:g.130252258T>A GRCh38
NC_000003.11:g.129971101T>A , CM000665.1:g.129971101T>A GRCh37
NC_000003.10:g.131453791T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000504443.6:n.1456+949T>A
ENST00000504443.5:n.1456+949T>A
NR_027898.1:n.1495+949T>A
Search 100 bp 5'
Search 100 bp 3'