Canonical Allele Identifier: CA10690467
Gene: UCK2 HGNC NCBI

Linked Data

dbSNP Id: rs4657482
gnomAD v2: 1-165831649-A-G
gnomAD v3: 1-165862412-A-G
gnomAD v4: 1-165862412-A-G
MyVariant Identifiers: chr1:g.165831649A>G (hg19) chr1:g.165862412A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.165862412A>G , CM000663.2:g.165862412A>G GRCh38
NC_000001.10:g.165831649A>G , CM000663.1:g.165831649A>G GRCh37
NC_000001.9:g.164098273A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000367879.9:c.100-27792A>G MANE Select ENSP00000356853.4:n.100-27792A>G
ENST00000642653.1:c.-202-22730A>G ENSP00000494961.1:n.-202-22730A>G
ENST00000367879.8:c.100-27792A>G ENSP00000356853.4:n.100-27792A>G
NM_012474.4:c.100-27792A>G NP_036606.2:n.100-27792A>G
NM_001363568.1:c.-202-22730A>G NP_001350497.1:n.-202-22730A>G
NM_012474.5:c.100-27792A>G MANE Select NP_036606.2:n.100-27792A>G
NM_001363568.2:c.-202-22730A>G NP_001350497.1:n.-202-22730A>G
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