Canonical Allele Identifier: CA527131058

Gene: SLC19A2

Linked Data

• dbSNP Id: rs1457030330
• gnomAD v2: 1-169454774-C-T
• gnomAD v4: 1-169485536-C-T
• MyVariant Identifiers: chr1:g.169454774C>T (hg19) ; chr1:g.169485536C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169485536C>T , CM000663.2:g.169485536C>T	GRCh38
NC_000001.10:g.169454774C>T , CM000663.1:g.169454774C>T	GRCh37
NC_000001.9:g.167721398C>T	NCBI36
NG_008255.1:g.5435G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236137.10:c.204+27G>A MANE Select	ENSP00000236137.5:n.204+27G>A
ENST00000646596.1:c.204+27G>A	ENSP00000494404.1:n.204+27G>A
ENST00000236137.9:c.204+27G>A	ENSP00000236137.5:n.204+27G>A
ENST00000367804.4:c.204+27G>A	ENSP00000356778.3:n.204+27G>A
NM_006996.2:c.204+27G>A	NP_008927.1:n.204+27G>A
XM_011509076.1:c.12+517G>A	XP_011507378.1:n.12+517G>A
XM_011509077.1:c.204+27G>A	XP_011507379.1:n.204+27G>A
NM_001319667.1:c.204+27G>A	NP_001306596.1:n.204+27G>A
NM_006996.3:c.204+27G>A MANE Select	NP_008927.1:n.204+27G>A