Canonical Allele Identifier: CA2649031571
Gene: SLC19A2 HGNC NCBI

Linked Data

gnomAD v4: 1-169485745-A-ACACCGGGCCGGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169485749_169485760dup , CM000663.2:g.169485749_169485760dup GRCh38
NC_000001.10:g.169454987_169454998dup , CM000663.1:g.169454987_169454998dup GRCh37
NC_000001.9:g.167721611_167721622dup NCBI36
NG_008255.1:g.5214_5225dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000236137.10:c.10_21dup MANE Select ENSP00000236137.5:p.Val7_Ser8insProGlyProVal
ENST00000646596.1:c.10_21dup ENSP00000494404.1:p.Val7_Ser8insProGlyProVal
ENST00000236137.9:c.10_21dup ENSP00000236137.5:p.Val7_Ser8insProGlyProVal
ENST00000367804.4:c.10_21dup ENSP00000356778.3:p.Val7_Ser8insProGlyProVal
NM_006996.2:c.10_21dup NP_008927.1:p.Val7_Ser8insProGlyProVal
XM_011509076.1:c.12+296_12+307dup XP_011507378.1:n.12+296_12+307dup
XM_011509077.1:c.10_21dup XP_011507379.1:p.Val7_Ser8insProGlyProVal
NM_001319667.1:c.10_21dup NP_001306596.1:p.Val7_Ser8insProGlyProVal
NM_006996.3:c.10_21dup MANE Select NP_008927.1:p.Val7_Ser8insProGlyProVal
Search 100 bp 5'
Search 100 bp 3'