Canonical Allele Identifier: CA833193194

Gene: AHCYL2

Linked Data

• dbSNP Id: rs1432904209
• gnomAD v3: 7-129365049-C-A
• gnomAD v4: 7-129365049-C-A
• MyVariant Identifiers: chr7:g.129004890C>A (hg19) ; chr7:g.129365049C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129365049C>A , CM000669.2:g.129365049C>A	GRCh38
NC_000007.13:g.129004890C>A , CM000669.1:g.129004890C>A	GRCh37
NC_000007.12:g.128792126C>A	NCBI36
NG_029180.1:g.145036C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000325006.8:c.364-14589C>A MANE Select	ENSP00000315931.3:n.364-14589C>A
ENST00000325006.7:c.364-14589C>A	ENSP00000315931.3:n.364-14589C>A
ENST00000446544.6:c.364-14592C>A	ENSP00000413639.2:n.364-14592C>A
ENST00000461161.5:n.159+13388C>A
NM_001130720.2:c.364-14592C>A	NP_001124192.1:n.364-14592C>A
NM_015328.3:c.364-14589C>A	NP_056143.1:n.364-14589C>A
XR_927961.1:n.86-1576G>T
XM_017011904.1:c.-255-14592C>A	XP_016867393.1:n.-255-14592C>A
XM_017011906.1:c.-258-14589C>A	XP_016867395.1:n.-258-14589C>A
NM_001130720.3:c.364-14592C>A	NP_001124192.1:n.364-14592C>A
NM_015328.4:c.364-14589C>A MANE Select	NP_056143.1:n.364-14589C>A
NM_001393387.1:c.364-14589C>A	NP_001380316.1:n.364-14589C>A
NR_171671.1:n.411-12493C>A