Canonical Allele Identifier: CA346210081

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598407G>A (hg19) ; chr2:g.27375540G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375540G>A , CM000664.2:g.27375540G>A	GRCh38
NC_000002.11:g.27598407G>A , CM000664.1:g.27598407G>A	GRCh37
NC_000002.10:g.27451911G>A	NCBI36
NG_028219.1:g.10205C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.809G>A MANE Select	ENSP00000233575.2:p.Gly270Asp
ENST00000233575.6:c.809G>A	ENSP00000233575.2:p.Gly270Asp
ENST00000427123.5:c.*619G>A	ENSP00000405399.1:n.*619G>A
ENST00000440760.5:c.*654G>A	ENSP00000399727.1:n.*654G>A
ENST00000453453.1:c.*336G>A	ENSP00000401922.1:n.*336G>A
ENST00000493711.1:n.526G>A
ENST00000537606.5:c.734G>A	ENSP00000439208.1:p.Gly245Asp
NM_001267059.1:c.773G>A	NP_001253988.1:p.Gly258Asp
NM_001267060.1:c.734G>A	NP_001253989.1:p.Gly245Asp
NM_001267061.1:c.749G>A	NP_001253990.1:p.Gly250Asp
NM_014748.3:c.809G>A	NP_055563.1:p.Gly270Asp
NR_049782.1:n.1182G>A
NR_049783.1:n.1155G>A
NR_049784.1:n.1131G>A
NR_049785.1:n.1064G>A
NR_049786.1:n.1013G>A
NR_049787.1:n.864G>A
NR_049788.1:n.794G>A
XM_011533203.1:c.167G>A	XP_011531505.1:p.Gly56Asp
XM_011533203.2:c.167G>A	XP_011531505.1:p.Gly56Asp
XM_017005405.2:c.167G>A	XP_016860894.1:p.Gly56Asp
NM_014748.4:c.809G>A MANE Select	NP_055563.1:p.Gly270Asp
NM_001267059.2:c.773G>A	NP_001253988.1:p.Gly258Asp
NM_001267061.2:c.749G>A	NP_001253990.1:p.Gly250Asp
NR_049782.2:n.1062G>A
NR_049783.2:n.1035G>A
NR_049784.2:n.1011G>A
NR_049785.2:n.944G>A
NR_049786.2:n.893G>A
NR_049787.2:n.744G>A
NR_049788.2:n.674G>A
NM_001267060.2:c.734G>A	NP_001253989.1:p.Gly245Asp