Canonical Allele Identifier: CA396615110
Community Standard Title: NM_018052.5(VAC14):c.104+2T>G
Gene: VAC14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70800795A>C , CM000678.2:g.70800795A>C GRCh38
NC_000016.9:g.70834698A>C , CM000678.1:g.70834698A>C GRCh37
NC_000016.8:g.69392199A>C NCBI36
NG_033116.2:g.434928T>G
NG_054902.1:g.5375T>G

Transcript Alleles

HGVS Amino-acid Change
NM_018052.5:c.104+2T>G MANE Select NP_060522.3:n.104+2T>G
ENST00000261776.10:c.104+2T>G MANE Select ENSP00000261776.5:n.104+2T>G
NM_001351157.1:c.-448+2T>G NP_001338086.1:n.-448+2T>G
NM_001351157.2:c.-448+2T>G NP_001338086.1:n.-448+2T>G
NM_018052.3:c.104+2T>G NP_060522.3:n.104+2T>G
NM_018052.4:c.104+2T>G NP_060522.3:n.104+2T>G
ENST00000261776.9:c.104+2T>G ENSP00000261776.5:n.104+2T>G
ENST00000568548.5:c.104+2T>G ENSP00000454650.1:n.104+2T>G
ENST00000568886.5:c.104+2T>G ENSP00000457809.1:n.104+2T>G
XM_005256038.2:c.104+2T>G XP_005256095.1:n.104+2T>G
XM_005256038.4:c.104+2T>G XP_005256095.1:n.104+2T>G
XM_005256041.2:c.104+2T>G XP_005256098.2:n.104+2T>G
XM_005256041.4:c.104+2T>G XP_005256098.2:n.104+2T>G
XM_011523223.1:c.104+2T>G XP_011521525.1:n.104+2T>G
XM_011523223.3:c.104+2T>G XP_011521525.1:n.104+2T>G
XM_011523224.1:c.104+2T>G XP_011521526.1:n.104+2T>G
XM_011523224.3:c.104+2T>G XP_011521526.1:n.104+2T>G
XM_011523225.1:c.104+2T>G XP_011521527.1:n.104+2T>G
XM_011523225.3:c.104+2T>G XP_011521527.1:n.104+2T>G
XM_017023441.2:c.104+2T>G XP_016878930.1:n.104+2T>G
XM_017023442.2:c.104+2T>G XP_016878931.1:n.104+2T>G