Canonical Allele Identifier: CA346850

Gene: SLC20A2

Linked Data

• ClinVar Variation Id: 29795
• ClinVar RCV Id: RCV000172921
• dbSNP Id: rs387906652
• gnomAD v2: 8-42275478-G-A
• gnomAD v4: 8-42417960-G-A
• COSMIC: COSM4726646
• MyVariant Identifiers: chr8:g.42275478G>A (hg19) ; chr8:g.42417960G>A (hg38)
• PubMed: PMID:20301594 ; PMID:22327515 ; PMID:23334463

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42417960G>A , CM000670.2:g.42417960G>A	GRCh38
NC_000008.10:g.42275478G>A , CM000670.1:g.42275478G>A	GRCh37
NC_000008.9:g.42394635G>A	NCBI36
NG_032161.1:g.126879C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000520262.6:c.1802C>T MANE Select	ENSP00000429754.1:p.Ser601Leu
ENST00000342228.7:c.1802C>T	ENSP00000340465.3:p.Ser601Leu
ENST00000520179.5:c.1802C>T	ENSP00000429712.1:p.Ser601Leu
ENST00000520262.5:c.1802C>T	ENSP00000429754.1:p.Ser601Leu
NM_001257180.1:c.1802C>T	NP_001244109.1:p.Ser601Leu
NM_001257181.1:c.1802C>T	NP_001244110.1:p.Ser601Leu
NM_006749.4:c.1802C>T	NP_006740.1:p.Ser601Leu
XM_005273613.2:c.1802C>T	XP_005273670.1:p.Ser601Leu
XM_005273615.2:c.*39C>T	XP_005273672.1:n.*39C>T
XM_006716390.2:c.1661C>T	XP_006716453.1:p.Ser554Leu
XM_006716391.2:c.1391C>T	XP_006716454.1:p.Ser464Leu
XM_005273613.4:c.1802C>T	XP_005273670.1:p.Ser601Leu
XM_005273615.4:c.*39C>T	XP_005273672.1:n.*39C>T
XM_006716390.4:c.1661C>T	XP_006716453.1:p.Ser554Leu
XM_006716391.4:c.1391C>T	XP_006716454.1:p.Ser464Leu
XM_017013748.1:c.1802C>T	XP_016869237.1:p.Ser601Leu
XM_017013749.2:c.1661C>T	XP_016869238.1:p.Ser554Leu
XM_017013750.2:c.1391C>T	XP_016869239.1:p.Ser464Leu
XM_017013751.2:c.1391C>T	XP_016869240.1:p.Ser464Leu
XM_017013752.2:c.1391C>T	XP_016869241.1:p.Ser464Leu
XM_024447235.1:c.1802C>T	XP_024303003.1:p.Ser601Leu
XM_024447236.1:c.1802C>T	XP_024303004.1:p.Ser601Leu
XM_024447237.1:c.1661C>T	XP_024303005.1:p.Ser554Leu
NM_001257180.2:c.1802C>T MANE Select	NP_001244109.1:p.Ser601Leu
NM_006749.5:c.1802C>T	NP_006740.1:p.Ser601Leu
NM_001257181.2:c.1802C>T	NP_001244110.1:p.Ser601Leu