Canonical Allele Identifier: CA346210075

Gene: SNX17

Linked Data

• dbSNP Id: rs1299410943
• gnomAD v2: 2-27598406-G-A
• MyVariant Identifiers: chr2:g.27598406G>A (hg19) ; chr2:g.27375539G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375539G>A , CM000664.2:g.27375539G>A	GRCh38
NC_000002.11:g.27598406G>A , CM000664.1:g.27598406G>A	GRCh37
NC_000002.10:g.27451910G>A	NCBI36
NG_028219.1:g.10206C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.808G>A MANE Select	ENSP00000233575.2:p.Gly270Ser
ENST00000233575.6:c.808G>A	ENSP00000233575.2:p.Gly270Ser
ENST00000427123.5:c.*618G>A	ENSP00000405399.1:n.*618G>A
ENST00000440760.5:c.*653G>A	ENSP00000399727.1:n.*653G>A
ENST00000453453.1:c.*335G>A	ENSP00000401922.1:n.*335G>A
ENST00000493711.1:n.525G>A
ENST00000537606.5:c.733G>A	ENSP00000439208.1:p.Gly245Ser
NM_001267059.1:c.772G>A	NP_001253988.1:p.Gly258Ser
NM_001267060.1:c.733G>A	NP_001253989.1:p.Gly245Ser
NM_001267061.1:c.748G>A	NP_001253990.1:p.Gly250Ser
NM_014748.3:c.808G>A	NP_055563.1:p.Gly270Ser
NR_049782.1:n.1181G>A
NR_049783.1:n.1154G>A
NR_049784.1:n.1130G>A
NR_049785.1:n.1063G>A
NR_049786.1:n.1012G>A
NR_049787.1:n.863G>A
NR_049788.1:n.793G>A
XM_011533203.1:c.166G>A	XP_011531505.1:p.Gly56Ser
XM_011533203.2:c.166G>A	XP_011531505.1:p.Gly56Ser
XM_017005405.2:c.166G>A	XP_016860894.1:p.Gly56Ser
NM_014748.4:c.808G>A MANE Select	NP_055563.1:p.Gly270Ser
NM_001267059.2:c.772G>A	NP_001253988.1:p.Gly258Ser
NM_001267061.2:c.748G>A	NP_001253990.1:p.Gly250Ser
NR_049782.2:n.1061G>A
NR_049783.2:n.1034G>A
NR_049784.2:n.1010G>A
NR_049785.2:n.943G>A
NR_049786.2:n.892G>A
NR_049787.2:n.743G>A
NR_049788.2:n.673G>A
NM_001267060.2:c.733G>A	NP_001253989.1:p.Gly245Ser