Canonical Allele Identifier: CA11017228
Gene: VAX2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70905884G>A , CM000664.2:g.70905884G>A GRCh38
NC_000002.11:g.71133014G>A , CM000664.1:g.71133014G>A GRCh37
NC_000002.10:g.70986522G>A NCBI36
NG_030009.1:g.10295G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000234392.3:c.247+5016G>A MANE Select ENSP00000234392.2:n.247+5016G>A
ENST00000432367.6:c.71+5016G>A
ENST00000234392.2:c.247+5016G>A ENSP00000234392.2:n.247+5016G>A
NM_012476.2:c.247+5016G>A NP_036608.1:n.247+5016G>A
XM_006711982.2:c.247+5016G>A XP_006712045.1:n.247+5016G>A
XM_011532749.1:c.247+5016G>A XP_011531051.1:n.247+5016G>A
XM_011532750.1:c.247+5016G>A XP_011531052.1:n.247+5016G>A
XM_011532751.1:c.247+5016G>A XP_011531053.1:n.247+5016G>A
XM_011532752.1:c.247+5016G>A XP_011531054.1:n.247+5016G>A
XM_006711982.4:c.247+5016G>A XP_006712045.1:n.247+5016G>A
XM_011532750.3:c.247+5016G>A XP_011531052.1:n.247+5016G>A
XM_011532751.3:c.247+5016G>A XP_011531053.1:n.247+5016G>A
NM_012476.3:c.247+5016G>A MANE Select NP_036608.1:n.247+5016G>A
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