Canonical Allele Identifier: CA343112061

Gene: SLC19A2

Linked Data

• dbSNP Id: rs1441746122
• gnomAD v2: 1-169454799-A-G
• gnomAD v4: 1-169485561-A-G
• MyVariant Identifiers: chr1:g.169454799A>G (hg19) ; chr1:g.169485561A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169485561A>G , CM000663.2:g.169485561A>G	GRCh38
NC_000001.10:g.169454799A>G , CM000663.1:g.169454799A>G	GRCh37
NC_000001.9:g.167721423A>G	NCBI36
NG_008255.1:g.5410T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236137.10:c.204+2T>C MANE Select	ENSP00000236137.5:n.204+2T>C
ENST00000646596.1:c.204+2T>C	ENSP00000494404.1:n.204+2T>C
ENST00000236137.9:c.204+2T>C	ENSP00000236137.5:n.204+2T>C
ENST00000367804.4:c.204+2T>C	ENSP00000356778.3:n.204+2T>C
NM_006996.2:c.204+2T>C	NP_008927.1:n.204+2T>C
XM_011509076.1:c.12+492T>C	XP_011507378.1:n.12+492T>C
XM_011509077.1:c.204+2T>C	XP_011507379.1:n.204+2T>C
NM_001319667.1:c.204+2T>C	NP_001306596.1:n.204+2T>C
NM_006996.3:c.204+2T>C MANE Select	NP_008927.1:n.204+2T>C