Canonical Allele Identifier: CA346209766

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597984A>C (hg19) ; chr2:g.27375117A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375117A>C , CM000664.2:g.27375117A>C	GRCh38
NC_000002.11:g.27597984A>C , CM000664.1:g.27597984A>C	GRCh37
NC_000002.10:g.27451488A>C	NCBI36
NG_009305.1:g.341T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.738A>C MANE Select	ENSP00000233575.2:p.Gln246His
ENST00000233575.6:c.738A>C	ENSP00000233575.2:p.Gln246His
ENST00000427123.5:c.*548A>C	ENSP00000405399.1:n.*548A>C
ENST00000440760.5:c.*583A>C	ENSP00000399727.1:n.*583A>C
ENST00000453453.1:c.*265A>C	ENSP00000401922.1:n.*265A>C
ENST00000493711.1:n.455A>C
ENST00000494893.5:n.914A>C
ENST00000537606.5:c.663A>C	ENSP00000439208.1:p.Gln221His
NM_001267059.1:c.702A>C	NP_001253988.1:p.Gln234His
NM_001267060.1:c.663A>C	NP_001253989.1:p.Gln221His
NM_001267061.1:c.678A>C	NP_001253990.1:p.Gln226His
NM_014748.3:c.738A>C	NP_055563.1:p.Gln246His
NR_049782.1:n.1111A>C
NR_049783.1:n.1084A>C
NR_049784.1:n.1060A>C
NR_049785.1:n.993A>C
NR_049786.1:n.942A>C
NR_049787.1:n.793A>C
NR_049788.1:n.723A>C
XM_011533203.1:c.96A>C	XP_011531505.1:p.Gln32His
XM_011533203.2:c.96A>C	XP_011531505.1:p.Gln32His
XM_017005405.2:c.96A>C	XP_016860894.1:p.Gln32His
NM_014748.4:c.738A>C MANE Select	NP_055563.1:p.Gln246His
NM_001267059.2:c.702A>C	NP_001253988.1:p.Gln234His
NM_001267061.2:c.678A>C	NP_001253990.1:p.Gln226His
NR_049782.2:n.991A>C
NR_049783.2:n.964A>C
NR_049784.2:n.940A>C
NR_049785.2:n.873A>C
NR_049786.2:n.822A>C
NR_049787.2:n.673A>C
NR_049788.2:n.603A>C
NM_001267060.2:c.663A>C	NP_001253989.1:p.Gln221His