Canonical Allele Identifier: CA1107100337

Gene: AHCYL2

Linked Data

• dbSNP Id: rs1794057401
• gnomAD v3: 7-129365030-T-C
• gnomAD v4: 7-129365030-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129365030T>C , CM000669.2:g.129365030T>C	GRCh38
NC_000007.13:g.129004871T>C , CM000669.1:g.129004871T>C	GRCh37
NC_000007.12:g.128792107T>C	NCBI36
NG_029180.1:g.145017T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000325006.8:c.364-14608T>C MANE Select	ENSP00000315931.3:n.364-14608T>C
ENST00000325006.7:c.364-14608T>C	ENSP00000315931.3:n.364-14608T>C
ENST00000446544.6:c.364-14611T>C	ENSP00000413639.2:n.364-14611T>C
ENST00000461161.5:n.159+13369T>C
NM_001130720.2:c.364-14611T>C	NP_001124192.1:n.364-14611T>C
NM_015328.3:c.364-14608T>C	NP_056143.1:n.364-14608T>C
XR_927961.1:n.86-1557A>G
XM_017011904.1:c.-255-14611T>C	XP_016867393.1:n.-255-14611T>C
XM_017011906.1:c.-258-14608T>C	XP_016867395.1:n.-258-14608T>C
NM_001130720.3:c.364-14611T>C	NP_001124192.1:n.364-14611T>C
NM_015328.4:c.364-14608T>C MANE Select	NP_056143.1:n.364-14608T>C
NM_001393387.1:c.364-14608T>C	NP_001380316.1:n.364-14608T>C
NR_171671.1:n.411-12512T>C