Canonical Allele Identifier: CA346209814

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598005A>C (hg19) ; chr2:g.27375138A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375138A>C , CM000664.2:g.27375138A>C	GRCh38
NC_000002.11:g.27598005A>C , CM000664.1:g.27598005A>C	GRCh37
NC_000002.10:g.27451509A>C	NCBI36
NG_009305.1:g.320T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.759A>C MANE Select	ENSP00000233575.2:p.Lys253Asn
ENST00000233575.6:c.759A>C	ENSP00000233575.2:p.Lys253Asn
ENST00000427123.5:c.*569A>C	ENSP00000405399.1:n.*569A>C
ENST00000440760.5:c.*604A>C	ENSP00000399727.1:n.*604A>C
ENST00000453453.1:c.*286A>C	ENSP00000401922.1:n.*286A>C
ENST00000493711.1:n.476A>C
ENST00000494893.5:n.935A>C
ENST00000537606.5:c.684A>C	ENSP00000439208.1:p.Lys228Asn
NM_001267059.1:c.723A>C	NP_001253988.1:p.Lys241Asn
NM_001267060.1:c.684A>C	NP_001253989.1:p.Lys228Asn
NM_001267061.1:c.699A>C	NP_001253990.1:p.Lys233Asn
NM_014748.3:c.759A>C	NP_055563.1:p.Lys253Asn
NR_049782.1:n.1132A>C
NR_049783.1:n.1105A>C
NR_049784.1:n.1081A>C
NR_049785.1:n.1014A>C
NR_049786.1:n.963A>C
NR_049787.1:n.814A>C
NR_049788.1:n.744A>C
XM_011533203.1:c.117A>C	XP_011531505.1:p.Lys39Asn
XM_011533203.2:c.117A>C	XP_011531505.1:p.Lys39Asn
XM_017005405.2:c.117A>C	XP_016860894.1:p.Lys39Asn
NM_014748.4:c.759A>C MANE Select	NP_055563.1:p.Lys253Asn
NM_001267059.2:c.723A>C	NP_001253988.1:p.Lys241Asn
NM_001267061.2:c.699A>C	NP_001253990.1:p.Lys233Asn
NR_049782.2:n.1012A>C
NR_049783.2:n.985A>C
NR_049784.2:n.961A>C
NR_049785.2:n.894A>C
NR_049786.2:n.843A>C
NR_049787.2:n.694A>C
NR_049788.2:n.624A>C
NM_001267060.2:c.684A>C	NP_001253989.1:p.Lys228Asn