Canonical Allele Identifier: CA2560914270
Gene: AHCYL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129364958T>C , CM000669.2:g.129364958T>C GRCh38
NC_000007.13:g.129004799T>C , CM000669.1:g.129004799T>C GRCh37
NC_000007.12:g.128792035T>C NCBI36
NG_029180.1:g.144945T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000325006.8:c.364-14680T>C MANE Select ENSP00000315931.3:n.364-14680T>C
ENST00000325006.7:c.364-14680T>C ENSP00000315931.3:n.364-14680T>C
ENST00000446544.6:c.364-14683T>C ENSP00000413639.2:n.364-14683T>C
ENST00000461161.5:n.159+13297T>C
NM_001130720.2:c.364-14683T>C NP_001124192.1:n.364-14683T>C
NM_015328.3:c.364-14680T>C NP_056143.1:n.364-14680T>C
XR_927961.1:n.86-1485A>G
XM_017011904.1:c.-255-14683T>C XP_016867393.1:n.-255-14683T>C
XM_017011906.1:c.-258-14680T>C XP_016867395.1:n.-258-14680T>C
NM_001130720.3:c.364-14683T>C NP_001124192.1:n.364-14683T>C
NM_015328.4:c.364-14680T>C MANE Select NP_056143.1:n.364-14680T>C
NM_001393387.1:c.364-14680T>C NP_001380316.1:n.364-14680T>C
NR_171671.1:n.411-12584T>C