Canonical Allele Identifier: CA346209750

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597976C>A (hg19) ; chr2:g.27375109C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375109C>A , CM000664.2:g.27375109C>A	GRCh38
NC_000002.11:g.27597976C>A , CM000664.1:g.27597976C>A	GRCh37
NC_000002.10:g.27451480C>A	NCBI36
NG_009305.1:g.349G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.730C>A MANE Select	ENSP00000233575.2:p.His244Asn
ENST00000233575.6:c.730C>A	ENSP00000233575.2:p.His244Asn
ENST00000427123.5:c.*540C>A	ENSP00000405399.1:n.*540C>A
ENST00000440760.5:c.*575C>A	ENSP00000399727.1:n.*575C>A
ENST00000453453.1:c.*257C>A	ENSP00000401922.1:n.*257C>A
ENST00000493711.1:n.447C>A
ENST00000494893.5:n.906C>A
ENST00000537606.5:c.655C>A	ENSP00000439208.1:p.His219Asn
NM_001267059.1:c.694C>A	NP_001253988.1:p.His232Asn
NM_001267060.1:c.655C>A	NP_001253989.1:p.His219Asn
NM_001267061.1:c.670C>A	NP_001253990.1:p.His224Asn
NM_014748.3:c.730C>A	NP_055563.1:p.His244Asn
NR_049782.1:n.1103C>A
NR_049783.1:n.1076C>A
NR_049784.1:n.1052C>A
NR_049785.1:n.985C>A
NR_049786.1:n.934C>A
NR_049787.1:n.785C>A
NR_049788.1:n.715C>A
XM_011533203.1:c.88C>A	XP_011531505.1:p.His30Asn
XM_011533203.2:c.88C>A	XP_011531505.1:p.His30Asn
XM_017005405.2:c.88C>A	XP_016860894.1:p.His30Asn
NM_014748.4:c.730C>A MANE Select	NP_055563.1:p.His244Asn
NM_001267059.2:c.694C>A	NP_001253988.1:p.His232Asn
NM_001267061.2:c.670C>A	NP_001253990.1:p.His224Asn
NR_049782.2:n.983C>A
NR_049783.2:n.956C>A
NR_049784.2:n.932C>A
NR_049785.2:n.865C>A
NR_049786.2:n.814C>A
NR_049787.2:n.665C>A
NR_049788.2:n.595C>A
NM_001267060.2:c.655C>A	NP_001253989.1:p.His219Asn