Canonical Allele Identifier: CA346209838

Gene: SNX17

Linked Data

• gnomAD v4: 2-27375150-G-C
• MyVariant Identifiers: chr2:g.27598017G>C (hg19) ; chr2:g.27375150G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375150G>C , CM000664.2:g.27375150G>C	GRCh38
NC_000002.11:g.27598017G>C , CM000664.1:g.27598017G>C	GRCh37
NC_000002.10:g.27451521G>C	NCBI36
NG_009305.1:g.308C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.771G>C MANE Select	ENSP00000233575.2:p.Lys257Asn
ENST00000233575.6:c.771G>C	ENSP00000233575.2:p.Lys257Asn
ENST00000427123.5:c.*581G>C	ENSP00000405399.1:n.*581G>C
ENST00000440760.5:c.*616G>C	ENSP00000399727.1:n.*616G>C
ENST00000453453.1:c.*298G>C	ENSP00000401922.1:n.*298G>C
ENST00000493711.1:n.488G>C
ENST00000494893.5:n.947G>C
ENST00000537606.5:c.696G>C	ENSP00000439208.1:p.Lys232Asn
NM_001267059.1:c.735G>C	NP_001253988.1:p.Lys245Asn
NM_001267060.1:c.696G>C	NP_001253989.1:p.Lys232Asn
NM_001267061.1:c.711G>C	NP_001253990.1:p.Lys237Asn
NM_014748.3:c.771G>C	NP_055563.1:p.Lys257Asn
NR_049782.1:n.1144G>C
NR_049783.1:n.1117G>C
NR_049784.1:n.1093G>C
NR_049785.1:n.1026G>C
NR_049786.1:n.975G>C
NR_049787.1:n.826G>C
NR_049788.1:n.756G>C
XM_011533203.1:c.129G>C	XP_011531505.1:p.Lys43Asn
XM_011533203.2:c.129G>C	XP_011531505.1:p.Lys43Asn
XM_017005405.2:c.129G>C	XP_016860894.1:p.Lys43Asn
NM_014748.4:c.771G>C MANE Select	NP_055563.1:p.Lys257Asn
NM_001267059.2:c.735G>C	NP_001253988.1:p.Lys245Asn
NM_001267061.2:c.711G>C	NP_001253990.1:p.Lys237Asn
NR_049782.2:n.1024G>C
NR_049783.2:n.997G>C
NR_049784.2:n.973G>C
NR_049785.2:n.906G>C
NR_049786.2:n.855G>C
NR_049787.2:n.706G>C
NR_049788.2:n.636G>C
NM_001267060.2:c.696G>C	NP_001253989.1:p.Lys232Asn