Canonical Allele Identifier: CA346209737

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597971A>C (hg19) ; chr2:g.27375104A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375104A>C , CM000664.2:g.27375104A>C	GRCh38
NC_000002.11:g.27597971A>C , CM000664.1:g.27597971A>C	GRCh37
NC_000002.10:g.27451475A>C	NCBI36
NG_009305.1:g.354T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.725A>C MANE Select	ENSP00000233575.2:p.Glu242Ala
ENST00000233575.6:c.725A>C	ENSP00000233575.2:p.Glu242Ala
ENST00000427123.5:c.*535A>C	ENSP00000405399.1:n.*535A>C
ENST00000440760.5:c.*570A>C	ENSP00000399727.1:n.*570A>C
ENST00000453453.1:c.*252A>C	ENSP00000401922.1:n.*252A>C
ENST00000493711.1:n.442A>C
ENST00000494893.5:n.901A>C
ENST00000537606.5:c.650A>C	ENSP00000439208.1:p.Glu217Ala
NM_001267059.1:c.689A>C	NP_001253988.1:p.Glu230Ala
NM_001267060.1:c.650A>C	NP_001253989.1:p.Glu217Ala
NM_001267061.1:c.665A>C	NP_001253990.1:p.Glu222Ala
NM_014748.3:c.725A>C	NP_055563.1:p.Glu242Ala
NR_049782.1:n.1098A>C
NR_049783.1:n.1071A>C
NR_049784.1:n.1047A>C
NR_049785.1:n.980A>C
NR_049786.1:n.929A>C
NR_049787.1:n.780A>C
NR_049788.1:n.710A>C
XM_011533203.1:c.83A>C	XP_011531505.1:p.Glu28Ala
XM_011533203.2:c.83A>C	XP_011531505.1:p.Glu28Ala
XM_017005405.2:c.83A>C	XP_016860894.1:p.Glu28Ala
NM_014748.4:c.725A>C MANE Select	NP_055563.1:p.Glu242Ala
NM_001267059.2:c.689A>C	NP_001253988.1:p.Glu230Ala
NM_001267061.2:c.665A>C	NP_001253990.1:p.Glu222Ala
NR_049782.2:n.978A>C
NR_049783.2:n.951A>C
NR_049784.2:n.927A>C
NR_049785.2:n.860A>C
NR_049786.2:n.809A>C
NR_049787.2:n.660A>C
NR_049788.2:n.590A>C
NM_001267060.2:c.650A>C	NP_001253989.1:p.Glu217Ala