Canonical Allele Identifier: CA216321

Gene: SLC4A2

Linked Data

• ClinVar Variation Id: 64516
• ClinVar RCV Id: RCV000054703
• dbSNP Id: rs387907524
• MyVariant Identifiers: chr7:g.150761290C>T (hg19) ; chr7:g.151064203C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151064203C>T , CM000669.2:g.151064203C>T	GRCh38
NC_000007.13:g.150761290C>T , CM000669.1:g.150761290C>T	GRCh37
NC_000007.12:g.150392223C>T	NCBI36
NG_051947.1:g.11004C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413384.7:c.53C>T MANE Select	ENSP00000405600.2:p.Pro18Leu
ENST00000677246.1:c.53C>T	ENSP00000504447.1:p.Pro18Leu
ENST00000310317.9:c.52-402C>T	ENSP00000311402.5:n.52-402C>T
ENST00000392826.6:c.26C>T	ENSP00000376571.2:p.Pro9Leu
ENST00000413384.6:c.53C>T	ENSP00000405600.2:p.Pro18Leu
ENST00000461735.1:c.11C>T	ENSP00000419164.1:p.Pro4Leu
ENST00000463414.5:c.53C>T	ENSP00000418584.1:p.Pro18Leu
ENST00000482950.5:c.53C>T	ENSP00000419379.1:p.Pro18Leu
ENST00000483786.5:c.53C>T	ENSP00000417808.1:p.Pro18Leu
ENST00000485713.5:c.53C>T	ENSP00000419412.1:p.Pro18Leu
ENST00000488420.1:c.53C>T	ENSP00000417221.1:p.Pro18Leu
ENST00000490898.5:c.53C>T	ENSP00000418114.1:p.Pro18Leu
ENST00000494125.1:n.288C>T
NM_001199692.1:c.53C>T	NP_001186621.1:p.Pro18Leu
NM_001199693.1:c.26C>T	NP_001186622.1:p.Pro9Leu
NM_001199694.1:c.11C>T	NP_001186623.1:p.Pro4Leu
NM_003040.3:c.53C>T	NP_003031.3:p.Pro18Leu
XM_006716094.2:c.53C>T	XP_006716157.1:p.Pro18Leu
XM_011516497.1:c.53C>T	XP_011514799.1:p.Pro18Leu
NM_001199692.2:c.53C>T	NP_001186621.1:p.Pro18Leu
NM_001199694.2:c.11C>T	NP_001186623.1:p.Pro4Leu
XM_006716094.3:c.53C>T	XP_006716157.1:p.Pro18Leu
NM_003040.4:c.53C>T MANE Select	NP_003031.3:p.Pro18Leu
NM_001199692.3:c.53C>T	NP_001186621.1:p.Pro18Leu