Canonical Allele Identifier: CA425415807

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597993T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375126T>C , CM000664.2:g.27375126T>C	GRCh38
NC_000002.11:g.27597993T>C , CM000664.1:g.27597993T>C	GRCh37
NC_000002.10:g.27451497T>C	NCBI36
NG_009305.1:g.332A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.747T>C MANE Select	ENSP00000233575.2:p.Ser249=
ENST00000233575.6:c.747T>C	ENSP00000233575.2:p.Ser249=
ENST00000427123.5:c.*557T>C	ENSP00000405399.1:n.*557T>C
ENST00000440760.5:c.*592T>C	ENSP00000399727.1:n.*592T>C
ENST00000453453.1:c.*274T>C	ENSP00000401922.1:n.*274T>C
ENST00000493711.1:n.464T>C
ENST00000494893.5:n.923T>C
ENST00000537606.5:c.672T>C	ENSP00000439208.1:p.Ser224=
NM_001267059.1:c.711T>C	NP_001253988.1:p.Ser237=
NM_001267060.1:c.672T>C	NP_001253989.1:p.Ser224=
NM_001267061.1:c.687T>C	NP_001253990.1:p.Ser229=
NM_014748.3:c.747T>C	NP_055563.1:p.Ser249=
NR_049782.1:n.1120T>C
NR_049783.1:n.1093T>C
NR_049784.1:n.1069T>C
NR_049785.1:n.1002T>C
NR_049786.1:n.951T>C
NR_049787.1:n.802T>C
NR_049788.1:n.732T>C
XM_011533203.1:c.105T>C	XP_011531505.1:p.Ser35=
XM_011533203.2:c.105T>C	XP_011531505.1:p.Ser35=
XM_017005405.2:c.105T>C	XP_016860894.1:p.Ser35=
NM_014748.4:c.747T>C MANE Select	NP_055563.1:p.Ser249=
NM_001267059.2:c.711T>C	NP_001253988.1:p.Ser237=
NM_001267061.2:c.687T>C	NP_001253990.1:p.Ser229=
NR_049782.2:n.1000T>C
NR_049783.2:n.973T>C
NR_049784.2:n.949T>C
NR_049785.2:n.882T>C
NR_049786.2:n.831T>C
NR_049787.2:n.682T>C
NR_049788.2:n.612T>C
NM_001267060.2:c.672T>C	NP_001253989.1:p.Ser224=