Canonical Allele Identifier: CA155212

Gene: SLC19A2

Linked Data

• ClinVar Variation Id: 130317
• ClinVar RCV Id: RCV000118355 ; RCV000262382 ; RCV000377830
• dbSNP Id: rs2072757
• ExAC: 1:169455008 G / A
• gnomAD v2: 1-169455008-G-A
• gnomAD v3: 1-169485770-G-A
• gnomAD v4: 1-169485770-G-A
• MyVariant Identifiers: chr1:g.169455008G>A (hg19) ; chr1:g.169485770G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169485770G>A , CM000663.2:g.169485770G>A	GRCh38
NC_000001.10:g.169455008G>A , CM000663.1:g.169455008G>A	GRCh37
NC_000001.9:g.167721632G>A	NCBI36
NG_008255.1:g.5201C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236137.10:c.-4C>T MANE Select	ENSP00000236137.5:n.-4C>T
ENST00000646596.1:c.-4C>T	ENSP00000494404.1:n.-4C>T
ENST00000236137.9:c.-4C>T	ENSP00000236137.5:n.-4C>T
ENST00000367804.4:c.-4C>T	ENSP00000356778.3:n.-4C>T
NM_006996.2:c.-4C>T	NP_008927.1:n.-4C>T
XM_011509076.1:c.12+283C>T	XP_011507378.1:n.12+283C>T
XM_011509077.1:c.-4C>T	XP_011507379.1:n.-4C>T
NM_001319667.1:c.-4C>T	NP_001306596.1:n.-4C>T
NM_006996.3:c.-4C>T MANE Select	NP_008927.1:n.-4C>T