Canonical Allele Identifier: CA346209777

Gene: SNX17

Linked Data

• gnomAD v4: 2-27375122-A-T
• MyVariant Identifiers: chr2:g.27597989A>T (hg19) ; chr2:g.27375122A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375122A>T , CM000664.2:g.27375122A>T	GRCh38
NC_000002.11:g.27597989A>T , CM000664.1:g.27597989A>T	GRCh37
NC_000002.10:g.27451493A>T	NCBI36
NG_009305.1:g.336T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.743A>T MANE Select	ENSP00000233575.2:p.Lys248Ile
ENST00000233575.6:c.743A>T	ENSP00000233575.2:p.Lys248Ile
ENST00000427123.5:c.*553A>T	ENSP00000405399.1:n.*553A>T
ENST00000440760.5:c.*588A>T	ENSP00000399727.1:n.*588A>T
ENST00000453453.1:c.*270A>T	ENSP00000401922.1:n.*270A>T
ENST00000493711.1:n.460A>T
ENST00000494893.5:n.919A>T
ENST00000537606.5:c.668A>T	ENSP00000439208.1:p.Lys223Ile
NM_001267059.1:c.707A>T	NP_001253988.1:p.Lys236Ile
NM_001267060.1:c.668A>T	NP_001253989.1:p.Lys223Ile
NM_001267061.1:c.683A>T	NP_001253990.1:p.Lys228Ile
NM_014748.3:c.743A>T	NP_055563.1:p.Lys248Ile
NR_049782.1:n.1116A>T
NR_049783.1:n.1089A>T
NR_049784.1:n.1065A>T
NR_049785.1:n.998A>T
NR_049786.1:n.947A>T
NR_049787.1:n.798A>T
NR_049788.1:n.728A>T
XM_011533203.1:c.101A>T	XP_011531505.1:p.Lys34Ile
XM_011533203.2:c.101A>T	XP_011531505.1:p.Lys34Ile
XM_017005405.2:c.101A>T	XP_016860894.1:p.Lys34Ile
NM_014748.4:c.743A>T MANE Select	NP_055563.1:p.Lys248Ile
NM_001267059.2:c.707A>T	NP_001253988.1:p.Lys236Ile
NM_001267061.2:c.683A>T	NP_001253990.1:p.Lys228Ile
NR_049782.2:n.996A>T
NR_049783.2:n.969A>T
NR_049784.2:n.945A>T
NR_049785.2:n.878A>T
NR_049786.2:n.827A>T
NR_049787.2:n.678A>T
NR_049788.2:n.608A>T
NM_001267060.2:c.668A>T	NP_001253989.1:p.Lys223Ile