Canonical Allele Identifier: CA1577394

Gene: SNX17

Linked Data

• dbSNP Id: rs754638027
• ExAC: 2:27597948 T / C
• gnomAD v2: 2-27597948-T-C
• gnomAD v4: 2-27375081-T-C
• MyVariant Identifiers: chr2:g.27597948T>C (hg19) ; chr2:g.27375081T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375081T>C , CM000664.2:g.27375081T>C	GRCh38
NC_000002.11:g.27597948T>C , CM000664.1:g.27597948T>C	GRCh37
NC_000002.10:g.27451452T>C	NCBI36
NG_009305.1:g.377A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.702T>C MANE Select	ENSP00000233575.2:p.Arg234=
ENST00000233575.6:c.702T>C	ENSP00000233575.2:p.Arg234=
ENST00000427123.5:c.*512T>C	ENSP00000405399.1:n.*512T>C
ENST00000440760.5:c.*547T>C	ENSP00000399727.1:n.*547T>C
ENST00000453453.1:c.*229T>C	ENSP00000401922.1:n.*229T>C
ENST00000493711.1:n.419T>C
ENST00000494893.5:n.878T>C
ENST00000537606.5:c.627T>C	ENSP00000439208.1:p.Arg209=
NM_001267059.1:c.666T>C	NP_001253988.1:p.Arg222=
NM_001267060.1:c.627T>C	NP_001253989.1:p.Arg209=
NM_001267061.1:c.642T>C	NP_001253990.1:p.Arg214=
NM_014748.3:c.702T>C	NP_055563.1:p.Arg234=
NR_049782.1:n.1075T>C
NR_049783.1:n.1048T>C
NR_049784.1:n.1024T>C
NR_049785.1:n.957T>C
NR_049786.1:n.906T>C
NR_049787.1:n.757T>C
NR_049788.1:n.687T>C
XM_011533203.1:c.60T>C	XP_011531505.1:p.Arg20=
XM_011533203.2:c.60T>C	XP_011531505.1:p.Arg20=
XM_017005405.2:c.60T>C	XP_016860894.1:p.Arg20=
NM_014748.4:c.702T>C MANE Select	NP_055563.1:p.Arg234=
NM_001267059.2:c.666T>C	NP_001253988.1:p.Arg222=
NM_001267061.2:c.642T>C	NP_001253990.1:p.Arg214=
NR_049782.2:n.955T>C
NR_049783.2:n.928T>C
NR_049784.2:n.904T>C
NR_049785.2:n.837T>C
NR_049786.2:n.786T>C
NR_049787.2:n.637T>C
NR_049788.2:n.567T>C
NM_001267060.2:c.627T>C	NP_001253989.1:p.Arg209=