Canonical Allele Identifier: CA425415841

Gene: SNX17

Linked Data

• dbSNP Id: rs1168053448
• gnomAD v2: 2-27598011-C-T
• gnomAD v4: 2-27375144-C-T
• MyVariant Identifiers: chr2:g.27598011C>T (hg19) ; chr2:g.27375144C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375144C>T , CM000664.2:g.27375144C>T	GRCh38
NC_000002.11:g.27598011C>T , CM000664.1:g.27598011C>T	GRCh37
NC_000002.10:g.27451515C>T	NCBI36
NG_009305.1:g.314G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.765C>T MANE Select	ENSP00000233575.2:p.Ser255=
ENST00000233575.6:c.765C>T	ENSP00000233575.2:p.Ser255=
ENST00000427123.5:c.*575C>T	ENSP00000405399.1:n.*575C>T
ENST00000440760.5:c.*610C>T	ENSP00000399727.1:n.*610C>T
ENST00000453453.1:c.*292C>T	ENSP00000401922.1:n.*292C>T
ENST00000493711.1:n.482C>T
ENST00000494893.5:n.941C>T
ENST00000537606.5:c.690C>T	ENSP00000439208.1:p.Ser230=
NM_001267059.1:c.729C>T	NP_001253988.1:p.Ser243=
NM_001267060.1:c.690C>T	NP_001253989.1:p.Ser230=
NM_001267061.1:c.705C>T	NP_001253990.1:p.Ser235=
NM_014748.3:c.765C>T	NP_055563.1:p.Ser255=
NR_049782.1:n.1138C>T
NR_049783.1:n.1111C>T
NR_049784.1:n.1087C>T
NR_049785.1:n.1020C>T
NR_049786.1:n.969C>T
NR_049787.1:n.820C>T
NR_049788.1:n.750C>T
XM_011533203.1:c.123C>T	XP_011531505.1:p.Ser41=
XM_011533203.2:c.123C>T	XP_011531505.1:p.Ser41=
XM_017005405.2:c.123C>T	XP_016860894.1:p.Ser41=
NM_014748.4:c.765C>T MANE Select	NP_055563.1:p.Ser255=
NM_001267059.2:c.729C>T	NP_001253988.1:p.Ser243=
NM_001267061.2:c.705C>T	NP_001253990.1:p.Ser235=
NR_049782.2:n.1018C>T
NR_049783.2:n.991C>T
NR_049784.2:n.967C>T
NR_049785.2:n.900C>T
NR_049786.2:n.849C>T
NR_049787.2:n.700C>T
NR_049788.2:n.630C>T
NM_001267060.2:c.690C>T	NP_001253989.1:p.Ser230=