Canonical Allele Identifier: CA425606866

Gene: SNX17

Linked Data

• gnomAD v4: 2-27375538-T-C
• MyVariant Identifiers: chr2:g.27598405T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375538T>C , CM000664.2:g.27375538T>C	GRCh38
NC_000002.11:g.27598405T>C , CM000664.1:g.27598405T>C	GRCh37
NC_000002.10:g.27451909T>C	NCBI36
NG_028219.1:g.10207A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.807T>C MANE Select	ENSP00000233575.2:p.Tyr269=
ENST00000233575.6:c.807T>C	ENSP00000233575.2:p.Tyr269=
ENST00000427123.5:c.*617T>C	ENSP00000405399.1:n.*617T>C
ENST00000440760.5:c.*652T>C	ENSP00000399727.1:n.*652T>C
ENST00000453453.1:c.*334T>C	ENSP00000401922.1:n.*334T>C
ENST00000493711.1:n.524T>C
ENST00000537606.5:c.732T>C	ENSP00000439208.1:p.Tyr244=
NM_001267059.1:c.771T>C	NP_001253988.1:p.Tyr257=
NM_001267060.1:c.732T>C	NP_001253989.1:p.Tyr244=
NM_001267061.1:c.747T>C	NP_001253990.1:p.Tyr249=
NM_014748.3:c.807T>C	NP_055563.1:p.Tyr269=
NR_049782.1:n.1180T>C
NR_049783.1:n.1153T>C
NR_049784.1:n.1129T>C
NR_049785.1:n.1062T>C
NR_049786.1:n.1011T>C
NR_049787.1:n.862T>C
NR_049788.1:n.792T>C
XM_011533203.1:c.165T>C	XP_011531505.1:p.Tyr55=
XM_011533203.2:c.165T>C	XP_011531505.1:p.Tyr55=
XM_017005405.2:c.165T>C	XP_016860894.1:p.Tyr55=
NM_014748.4:c.807T>C MANE Select	NP_055563.1:p.Tyr269=
NM_001267059.2:c.771T>C	NP_001253988.1:p.Tyr257=
NM_001267061.2:c.747T>C	NP_001253990.1:p.Tyr249=
NR_049782.2:n.1060T>C
NR_049783.2:n.1033T>C
NR_049784.2:n.1009T>C
NR_049785.2:n.942T>C
NR_049786.2:n.891T>C
NR_049787.2:n.742T>C
NR_049788.2:n.672T>C
NM_001267060.2:c.732T>C	NP_001253989.1:p.Tyr244=