Canonical Allele Identifier: CA346209724

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597965C>A (hg19) ; chr2:g.27375098C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375098C>A , CM000664.2:g.27375098C>A	GRCh38
NC_000002.11:g.27597965C>A , CM000664.1:g.27597965C>A	GRCh37
NC_000002.10:g.27451469C>A	NCBI36
NG_009305.1:g.360G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.719C>A MANE Select	ENSP00000233575.2:p.Thr240Asn
ENST00000233575.6:c.719C>A	ENSP00000233575.2:p.Thr240Asn
ENST00000427123.5:c.*529C>A	ENSP00000405399.1:n.*529C>A
ENST00000440760.5:c.*564C>A	ENSP00000399727.1:n.*564C>A
ENST00000453453.1:c.*246C>A	ENSP00000401922.1:n.*246C>A
ENST00000493711.1:n.436C>A
ENST00000494893.5:n.895C>A
ENST00000537606.5:c.644C>A	ENSP00000439208.1:p.Thr215Asn
NM_001267059.1:c.683C>A	NP_001253988.1:p.Thr228Asn
NM_001267060.1:c.644C>A	NP_001253989.1:p.Thr215Asn
NM_001267061.1:c.659C>A	NP_001253990.1:p.Thr220Asn
NM_014748.3:c.719C>A	NP_055563.1:p.Thr240Asn
NR_049782.1:n.1092C>A
NR_049783.1:n.1065C>A
NR_049784.1:n.1041C>A
NR_049785.1:n.974C>A
NR_049786.1:n.923C>A
NR_049787.1:n.774C>A
NR_049788.1:n.704C>A
XM_011533203.1:c.77C>A	XP_011531505.1:p.Thr26Asn
XM_011533203.2:c.77C>A	XP_011531505.1:p.Thr26Asn
XM_017005405.2:c.77C>A	XP_016860894.1:p.Thr26Asn
NM_014748.4:c.719C>A MANE Select	NP_055563.1:p.Thr240Asn
NM_001267059.2:c.683C>A	NP_001253988.1:p.Thr228Asn
NM_001267061.2:c.659C>A	NP_001253990.1:p.Thr220Asn
NR_049782.2:n.972C>A
NR_049783.2:n.945C>A
NR_049784.2:n.921C>A
NR_049785.2:n.854C>A
NR_049786.2:n.803C>A
NR_049787.2:n.654C>A
NR_049788.2:n.584C>A
NM_001267060.2:c.644C>A	NP_001253989.1:p.Thr215Asn