Canonical Allele Identifier: CA1577434

Gene: SNX17

Linked Data

• dbSNP Id: rs752416762
• ExAC: 2:27598411 C / A
• gnomAD v2: 2-27598411-C-A
• gnomAD v4: 2-27375544-C-A
• MyVariant Identifiers: chr2:g.27598411C>A (hg19) ; chr2:g.27375544C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375544C>A , CM000664.2:g.27375544C>A	GRCh38
NC_000002.11:g.27598411C>A , CM000664.1:g.27598411C>A	GRCh37
NC_000002.10:g.27451915C>A	NCBI36
NG_028219.1:g.10201G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.813C>A MANE Select	ENSP00000233575.2:p.Tyr271Ter
ENST00000233575.6:c.813C>A	ENSP00000233575.2:p.Tyr271Ter
ENST00000427123.5:c.*623C>A	ENSP00000405399.1:n.*623C>A
ENST00000440760.5:c.*658C>A	ENSP00000399727.1:n.*658C>A
ENST00000453453.1:c.*340C>A	ENSP00000401922.1:n.*340C>A
ENST00000493711.1:n.530C>A
ENST00000537606.5:c.738C>A	ENSP00000439208.1:p.Tyr246Ter
NM_001267059.1:c.777C>A	NP_001253988.1:p.Tyr259Ter
NM_001267060.1:c.738C>A	NP_001253989.1:p.Tyr246Ter
NM_001267061.1:c.753C>A	NP_001253990.1:p.Tyr251Ter
NM_014748.3:c.813C>A	NP_055563.1:p.Tyr271Ter
NR_049782.1:n.1186C>A
NR_049783.1:n.1159C>A
NR_049784.1:n.1135C>A
NR_049785.1:n.1068C>A
NR_049786.1:n.1017C>A
NR_049787.1:n.868C>A
NR_049788.1:n.798C>A
XM_011533203.1:c.171C>A	XP_011531505.1:p.Tyr57Ter
XM_011533203.2:c.171C>A	XP_011531505.1:p.Tyr57Ter
XM_017005405.2:c.171C>A	XP_016860894.1:p.Tyr57Ter
NM_014748.4:c.813C>A MANE Select	NP_055563.1:p.Tyr271Ter
NM_001267059.2:c.777C>A	NP_001253988.1:p.Tyr259Ter
NM_001267061.2:c.753C>A	NP_001253990.1:p.Tyr251Ter
NR_049782.2:n.1066C>A
NR_049783.2:n.1039C>A
NR_049784.2:n.1015C>A
NR_049785.2:n.948C>A
NR_049786.2:n.897C>A
NR_049787.2:n.748C>A
NR_049788.2:n.678C>A
NM_001267060.2:c.738C>A	NP_001253989.1:p.Tyr246Ter