Canonical Allele Identifier: CA346210095

Gene: SNX17

Linked Data

• gnomAD v4: 2-27375543-A-G
• MyVariant Identifiers: chr2:g.27598410A>G (hg19) ; chr2:g.27375543A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375543A>G , CM000664.2:g.27375543A>G	GRCh38
NC_000002.11:g.27598410A>G , CM000664.1:g.27598410A>G	GRCh37
NC_000002.10:g.27451914A>G	NCBI36
NG_028219.1:g.10202T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.812A>G MANE Select	ENSP00000233575.2:p.Tyr271Cys
ENST00000233575.6:c.812A>G	ENSP00000233575.2:p.Tyr271Cys
ENST00000427123.5:c.*622A>G	ENSP00000405399.1:n.*622A>G
ENST00000440760.5:c.*657A>G	ENSP00000399727.1:n.*657A>G
ENST00000453453.1:c.*339A>G	ENSP00000401922.1:n.*339A>G
ENST00000493711.1:n.529A>G
ENST00000537606.5:c.737A>G	ENSP00000439208.1:p.Tyr246Cys
NM_001267059.1:c.776A>G	NP_001253988.1:p.Tyr259Cys
NM_001267060.1:c.737A>G	NP_001253989.1:p.Tyr246Cys
NM_001267061.1:c.752A>G	NP_001253990.1:p.Tyr251Cys
NM_014748.3:c.812A>G	NP_055563.1:p.Tyr271Cys
NR_049782.1:n.1185A>G
NR_049783.1:n.1158A>G
NR_049784.1:n.1134A>G
NR_049785.1:n.1067A>G
NR_049786.1:n.1016A>G
NR_049787.1:n.867A>G
NR_049788.1:n.797A>G
XM_011533203.1:c.170A>G	XP_011531505.1:p.Tyr57Cys
XM_011533203.2:c.170A>G	XP_011531505.1:p.Tyr57Cys
XM_017005405.2:c.170A>G	XP_016860894.1:p.Tyr57Cys
NM_014748.4:c.812A>G MANE Select	NP_055563.1:p.Tyr271Cys
NM_001267059.2:c.776A>G	NP_001253988.1:p.Tyr259Cys
NM_001267061.2:c.752A>G	NP_001253990.1:p.Tyr251Cys
NR_049782.2:n.1065A>G
NR_049783.2:n.1038A>G
NR_049784.2:n.1014A>G
NR_049785.2:n.947A>G
NR_049786.2:n.896A>G
NR_049787.2:n.747A>G
NR_049788.2:n.677A>G
NM_001267060.2:c.737A>G	NP_001253989.1:p.Tyr246Cys