Canonical Allele Identifier: CA346209763

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597983A>C (hg19) ; chr2:g.27375116A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375116A>C , CM000664.2:g.27375116A>C	GRCh38
NC_000002.11:g.27597983A>C , CM000664.1:g.27597983A>C	GRCh37
NC_000002.10:g.27451487A>C	NCBI36
NG_009305.1:g.342T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.737A>C MANE Select	ENSP00000233575.2:p.Gln246Pro
ENST00000233575.6:c.737A>C	ENSP00000233575.2:p.Gln246Pro
ENST00000427123.5:c.*547A>C	ENSP00000405399.1:n.*547A>C
ENST00000440760.5:c.*582A>C	ENSP00000399727.1:n.*582A>C
ENST00000453453.1:c.*264A>C	ENSP00000401922.1:n.*264A>C
ENST00000493711.1:n.454A>C
ENST00000494893.5:n.913A>C
ENST00000537606.5:c.662A>C	ENSP00000439208.1:p.Gln221Pro
NM_001267059.1:c.701A>C	NP_001253988.1:p.Gln234Pro
NM_001267060.1:c.662A>C	NP_001253989.1:p.Gln221Pro
NM_001267061.1:c.677A>C	NP_001253990.1:p.Gln226Pro
NM_014748.3:c.737A>C	NP_055563.1:p.Gln246Pro
NR_049782.1:n.1110A>C
NR_049783.1:n.1083A>C
NR_049784.1:n.1059A>C
NR_049785.1:n.992A>C
NR_049786.1:n.941A>C
NR_049787.1:n.792A>C
NR_049788.1:n.722A>C
XM_011533203.1:c.95A>C	XP_011531505.1:p.Gln32Pro
XM_011533203.2:c.95A>C	XP_011531505.1:p.Gln32Pro
XM_017005405.2:c.95A>C	XP_016860894.1:p.Gln32Pro
NM_014748.4:c.737A>C MANE Select	NP_055563.1:p.Gln246Pro
NM_001267059.2:c.701A>C	NP_001253988.1:p.Gln234Pro
NM_001267061.2:c.677A>C	NP_001253990.1:p.Gln226Pro
NR_049782.2:n.990A>C
NR_049783.2:n.963A>C
NR_049784.2:n.939A>C
NR_049785.2:n.872A>C
NR_049786.2:n.821A>C
NR_049787.2:n.672A>C
NR_049788.2:n.602A>C
NM_001267060.2:c.662A>C	NP_001253989.1:p.Gln221Pro