Canonical Allele Identifier: CA10631115

Gene: SMIM19 SLC20A2

Linked Data

• ClinVar Variation Id: 363096
• ClinVar RCV Id: RCV000354287
• dbSNP Id: rs1554579481
• MyVariant Identifiers: chr8:g.42396956dupC (hg19) ; chr8:g.42541813dupC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42541814dup , CM000670.2:g.42541814dup	GRCh38
NC_000008.10:g.42396957dup , CM000670.1:g.42396957dup	GRCh37
NC_000008.9:g.42516114dup	NCBI36
NG_032161.1:g.5401dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417410.7:c.-564dup (SMIM19) MANE Select	ENSP00000405694.2:n.-564dup
ENST00000342228.7:c.-265+8dup (SLC20A2)	ENSP00000340465.3:n.-265+8dup
ENST00000414154.6:c.-5+109dup (SMIM19)	ENSP00000408997.2:n.-5+109dup
ENST00000416469.6:c.-346dup (SMIM19)	ENSP00000390750.2:n.-346dup
ENST00000417410.6:c.-564dup (SMIM19)	ENSP00000405694.2:n.-564dup
ENST00000438528.7:c.-5+615dup (SMIM19)	ENSP00000391549.2:n.-5+615dup
ENST00000498447.5:c.-5+109dup (SMIM19)	ENSP00000430708.1:n.-5+109dup
ENST00000518574.1:c.-17+109dup (SMIM19)	ENSP00000430387.1:n.-17+109dup
ENST00000529505.1:n.153dup (SMIM19)
NM_001135674.1:c.-564dup (SMIM19)	NP_001129146.1:n.-564dup
NM_001135675.1:c.-346dup (SMIM19)	NP_001129147.1:n.-346dup
NM_001135676.1:c.-5+615dup (SMIM19)	NP_001129148.1:n.-5+615dup
NM_006749.4:c.-265+8dup (SLC20A2)	NP_006740.1:n.-265+8dup
NM_138436.3:c.-5+109dup (SMIM19)	NP_612445.2:n.-5+109dup
XM_005273398.4:c.-635dup (SMIM19)	XP_005273455.1:n.-635dup
XM_017013748.1:c.-265+47dup (SLC20A2)	XP_016869237.1:n.-265+47dup
XM_017013752.2:c.-811+47dup (SLC20A2)	XP_016869241.1:n.-811+47dup
XM_024447237.1:c.-265+47dup (SLC20A2)	XP_024303005.1:n.-265+47dup
NM_001135674.2:c.-564dup (SMIM19) MANE Select	NP_001129146.1:n.-564dup
NM_001135675.2:c.-346dup (SMIM19)	NP_001129147.1:n.-346dup
NM_001135676.2:c.-5+615dup (SMIM19)	NP_001129148.1:n.-5+615dup
NM_001363186.2:c.-635dup (SMIM19)	NP_001350115.1:n.-635dup
NM_006749.5:c.-265+8dup (SLC20A2)	NP_006740.1:n.-265+8dup
NM_138436.4:c.-5+109dup (SMIM19)	NP_612445.2:n.-5+109dup