Canonical Allele Identifier: CA2546354291
Gene: AHCYL2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129365010C>A , CM000669.2:g.129365010C>A GRCh38
NC_000007.13:g.129004851C>A , CM000669.1:g.129004851C>A GRCh37
NC_000007.12:g.128792087C>A NCBI36
NG_029180.1:g.144997C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000325006.8:c.364-14628C>A MANE Select ENSP00000315931.3:n.364-14628C>A
ENST00000325006.7:c.364-14628C>A ENSP00000315931.3:n.364-14628C>A
ENST00000446544.6:c.364-14631C>A ENSP00000413639.2:n.364-14631C>A
ENST00000461161.5:n.159+13349C>A
NM_001130720.2:c.364-14631C>A NP_001124192.1:n.364-14631C>A
NM_015328.3:c.364-14628C>A NP_056143.1:n.364-14628C>A
XR_927961.1:n.86-1537G>T
XM_017011904.1:c.-255-14631C>A XP_016867393.1:n.-255-14631C>A
XM_017011906.1:c.-258-14628C>A XP_016867395.1:n.-258-14628C>A
NM_001130720.3:c.364-14631C>A NP_001124192.1:n.364-14631C>A
NM_015328.4:c.364-14628C>A MANE Select NP_056143.1:n.364-14628C>A
NM_001393387.1:c.364-14628C>A NP_001380316.1:n.364-14628C>A
NR_171671.1:n.411-12532C>A
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