Canonical Allele Identifier: CA166771955

Gene: AHCYL2

Linked Data

• dbSNP Id: rs192699884
• gnomAD v2: 7-129004702-T-G
• gnomAD v3: 7-129364861-T-G
• gnomAD v4: 7-129364861-T-G
• MyVariant Identifiers: chr7:g.129004702T>G (hg19) ; chr7:g.129364861T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129364861T>G , CM000669.2:g.129364861T>G	GRCh38
NC_000007.13:g.129004702T>G , CM000669.1:g.129004702T>G	GRCh37
NC_000007.12:g.128791938T>G	NCBI36
NG_029180.1:g.144848T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000325006.8:c.364-14777T>G MANE Select	ENSP00000315931.3:n.364-14777T>G
ENST00000325006.7:c.364-14777T>G	ENSP00000315931.3:n.364-14777T>G
ENST00000446544.6:c.364-14780T>G	ENSP00000413639.2:n.364-14780T>G
ENST00000461161.5:n.159+13200T>G
NM_001130720.2:c.364-14780T>G	NP_001124192.1:n.364-14780T>G
NM_015328.3:c.364-14777T>G	NP_056143.1:n.364-14777T>G
XR_927961.1:n.86-1388A>C
XM_017011904.1:c.-255-14780T>G	XP_016867393.1:n.-255-14780T>G
XM_017011906.1:c.-258-14777T>G	XP_016867395.1:n.-258-14777T>G
NM_001130720.3:c.364-14780T>G	NP_001124192.1:n.364-14780T>G
NM_015328.4:c.364-14777T>G MANE Select	NP_056143.1:n.364-14777T>G
NM_001393387.1:c.364-14777T>G	NP_001380316.1:n.364-14777T>G
NR_171671.1:n.411-12681T>G