Canonical Allele Identifier: CA10859872
Gene: GALNT2 HGNC NCBI

Linked Data

dbSNP Id: rs4846914
gnomAD v2: 1-230295691-G-A
gnomAD v3: 1-230159944-G-A
gnomAD v4: 1-230159944-G-A
MyVariant Identifiers: chr1:g.230295691G>A (hg19) chr1:g.230159944G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.230159944G>A , CM000663.2:g.230159944G>A GRCh38
NC_000001.10:g.230295691G>A , CM000663.1:g.230295691G>A GRCh37
NC_000001.9:g.228362314G>A NCBI36
NG_011854.1:g.97736G>A
NG_011854.2:g.107156G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366672.5:c.127-18274G>A MANE Select ENSP00000355632.4:n.127-18274G>A
ENST00000366672.4:c.127-18274G>A ENSP00000355632.4:n.127-18274G>A
ENST00000494106.1:n.90-18274G>A
NM_001291866.1:c.13-18274G>A NP_001278795.1:n.13-18274G>A
NM_004481.4:c.127-18274G>A NP_004472.1:n.127-18274G>A
XM_011544154.1:c.55-18274G>A XP_011542456.1:n.55-18274G>A
XM_011544155.1:c.-75-18274G>A XP_011542457.1:n.-75-18274G>A
XM_017000963.2:c.127-18274G>A XP_016856452.1:n.127-18274G>A
XM_017000964.2:c.34-18274G>A XP_016856453.1:n.34-18274G>A
XM_017000965.1:c.13-18274G>A XP_016856454.1:n.13-18274G>A
XM_017000966.1:c.-75-18274G>A XP_016856455.1:n.-75-18274G>A
NM_004481.5:c.127-18274G>A MANE Select NP_004472.1:n.127-18274G>A
NM_001291866.2:c.13-18274G>A NP_001278795.1:n.13-18274G>A
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