Canonical Allele Identifier: CA10321446

Gene: TYMP SCO2

Linked Data

• dbSNP Id: rs773584055
• ExAC: 22:50964580 G / GAGGGGCTGAGAGGCGCGGGCTC
• gnomAD v2: 22-50964580-G-GAGGGGCTGAGAGGCGCGGGCTC
• gnomAD v4: 22-50526151-G-GAGGGGCTGAGAGGCGCGGGCTC
• MyVariant Identifiers: chr22:g.50964580_50964581insAGGGGCTGAGAGGCGCGGGCTC (hg19) ; chr22:g.50526151_50526152insAGGGGCTGAGAGGCGCGGGCTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526152_50526173dup , CM000684.2:g.50526152_50526173dup	GRCh38
NC_000022.10:g.50964581_50964602dup , CM000684.1:g.50964581_50964602dup	GRCh37
NC_000022.9:g.49311447_49311468dup	NCBI36
NG_011860.1:g.8913_8934dup , LRG_727:g.8913_8934dup
NG_016235.1:g.5267_5288dup
NG_021419.1:g.22937_22958dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252029.8:c.1160-32_1160-11dup (TYMP) MANE Select	ENSP00000252029.3:n.1160-32_1160-11dup
ENST00000395680.6:c.1160-32_1160-11dup (TYMP)	ENSP00000379037.1:n.1160-32_1160-11dup
ENST00000395681.6:c.1160-17_1164dup (TYMP)
ENST00000543927.6:c.-14+73_-14+94dup (SCO2)	ENSP00000444433.1:n.-14+73_-14+94dup
ENST00000651490.1:c.92+73_92+94dup (TYMP)
ENST00000652401.1:c.661-32_661-11dup (TYMP)
ENST00000252029.7:c.1160-32_1160-11dup (TYMP)	ENSP00000252029.3:n.1160-32_1160-11dup
ENST00000395678.7:c.1160-32_1160-11dup (TYMP)	ENSP00000379036.3:n.1160-32_1160-11dup
ENST00000395680.5:c.1160-32_1160-11dup (TYMP)	ENSP00000379037.1:n.1160-32_1160-11dup
ENST00000395681.5:c.1160-17_1164dup (TYMP)
ENST00000423348.1:c.-14+73_-14+94dup	ENSP00000403570.1:n.-14+73_-14+94dup
ENST00000425169.1:c.1061-32_1061-11dup (TYMP)	ENSP00000395875.1:n.1061-32_1061-11dup
ENST00000476284.1:n.1238_1259dup (TYMP)
ENST00000487577.5:n.1447-32_1447-11dup (TYMP)
ENST00000543927.5:c.-14+73_-14+94dup	ENSP00000444433.1:n.-14+73_-14+94dup
NM_001113755.2:c.1160-32_1160-11dup (TYMP)	NP_001107227.1:n.1160-32_1160-11dup
NM_001113756.2:c.1160-32_1160-11dup (TYMP)	NP_001107228.1:n.1160-32_1160-11dup
NM_001169109.1:c.-14+73_-14+94dup (SCO2)	NP_001162580.1:n.-14+73_-14+94dup
NM_001257988.1:c.1160-32_1160-11dup , LRG_727t1:c.1160-32_1160-11dup (TYMP)	NP_001244917.1:n.1160-32_1160-11dup
NM_001257989.1:c.1160-17_1164dup , LRG_727t2:c.1160-17_1164dup (TYMP)
NM_001953.4:c.1160-32_1160-11dup (TYMP)	NP_001944.1:n.1160-32_1160-11dup
NM_001113755.3:c.1160-32_1160-11dup (TYMP)	NP_001107227.1:n.1160-32_1160-11dup
NM_001113756.3:c.1160-32_1160-11dup (TYMP)	NP_001107228.1:n.1160-32_1160-11dup
NM_001953.5:c.1160-32_1160-11dup (TYMP) MANE Select	NP_001944.1:n.1160-32_1160-11dup
NM_001169109.2:c.-14+73_-14+94dup (SCO2)	NP_001162580.1:n.-14+73_-14+94dup