Canonical Allele Identifier: CA346209740

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597972A>C (hg19) ; chr2:g.27375105A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375105A>C , CM000664.2:g.27375105A>C	GRCh38
NC_000002.11:g.27597972A>C , CM000664.1:g.27597972A>C	GRCh37
NC_000002.10:g.27451476A>C	NCBI36
NG_009305.1:g.353T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.726A>C MANE Select	ENSP00000233575.2:p.Glu242Asp
ENST00000233575.6:c.726A>C	ENSP00000233575.2:p.Glu242Asp
ENST00000427123.5:c.*536A>C	ENSP00000405399.1:n.*536A>C
ENST00000440760.5:c.*571A>C	ENSP00000399727.1:n.*571A>C
ENST00000453453.1:c.*253A>C	ENSP00000401922.1:n.*253A>C
ENST00000493711.1:n.443A>C
ENST00000494893.5:n.902A>C
ENST00000537606.5:c.651A>C	ENSP00000439208.1:p.Glu217Asp
NM_001267059.1:c.690A>C	NP_001253988.1:p.Glu230Asp
NM_001267060.1:c.651A>C	NP_001253989.1:p.Glu217Asp
NM_001267061.1:c.666A>C	NP_001253990.1:p.Glu222Asp
NM_014748.3:c.726A>C	NP_055563.1:p.Glu242Asp
NR_049782.1:n.1099A>C
NR_049783.1:n.1072A>C
NR_049784.1:n.1048A>C
NR_049785.1:n.981A>C
NR_049786.1:n.930A>C
NR_049787.1:n.781A>C
NR_049788.1:n.711A>C
XM_011533203.1:c.84A>C	XP_011531505.1:p.Glu28Asp
XM_011533203.2:c.84A>C	XP_011531505.1:p.Glu28Asp
XM_017005405.2:c.84A>C	XP_016860894.1:p.Glu28Asp
NM_014748.4:c.726A>C MANE Select	NP_055563.1:p.Glu242Asp
NM_001267059.2:c.690A>C	NP_001253988.1:p.Glu230Asp
NM_001267061.2:c.666A>C	NP_001253990.1:p.Glu222Asp
NR_049782.2:n.979A>C
NR_049783.2:n.952A>C
NR_049784.2:n.928A>C
NR_049785.2:n.861A>C
NR_049786.2:n.810A>C
NR_049787.2:n.661A>C
NR_049788.2:n.591A>C
NM_001267060.2:c.651A>C	NP_001253989.1:p.Glu217Asp