Canonical Allele Identifier: CA783184896

Gene: SLC44A2

Linked Data

• dbSNP Id: rs1250290337
• gnomAD v4: 19-10631195-C-T
• MyVariant Identifiers: chr19:g.10741871C>T (hg19) ; chr19:g.10631195C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10631195C>T , CM000681.2:g.10631195C>T	GRCh38
NC_000019.9:g.10741871C>T , CM000681.1:g.10741871C>T	GRCh37
NC_000019.8:g.10602871C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335757.10:c.330+54C>T MANE Select	ENSP00000336888.4:n.330+54C>T
ENST00000335757.9:c.330+54C>T	ENSP00000336888.4:n.330+54C>T
ENST00000407327.8:c.324+54C>T	ENSP00000385135.3:n.324+54C>T
ENST00000586078.5:c.330+54C>T	ENSP00000466664.1:n.330+54C>T
ENST00000588409.1:c.245+3191C>T	ENSP00000468070.1:n.245+3191C>T
ENST00000588465.5:n.239+54C>T
ENST00000588688.5:c.171+54C>T	ENSP00000467552.1:n.171+54C>T
ENST00000590382.5:c.165+54C>T	ENSP00000468691.1:n.165+54C>T
ENST00000590857.5:c.-220+54C>T	ENSP00000465547.1:n.-220+54C>T
ENST00000592293.5:c.*127+54C>T	ENSP00000466612.1:n.*127+54C>T
NM_001145056.1:c.324+54C>T	NP_001138528.1:n.324+54C>T
NM_020428.3:c.330+54C>T	NP_065161.3:n.330+54C>T
XM_005259997.1:c.330+54C>T	XP_005260054.1:n.330+54C>T
XM_005259999.1:c.324+54C>T	XP_005260056.1:n.324+54C>T
NM_001363611.1:c.330+54C>T	NP_001350540.1:n.330+54C>T
XM_005259999.2:c.324+54C>T	XP_005260056.1:n.324+54C>T
NM_020428.4:c.330+54C>T MANE Select	NP_065161.3:n.330+54C>T
NM_001145056.2:c.324+54C>T	NP_001138528.1:n.324+54C>T
NM_001363611.2:c.330+54C>T	NP_001350540.1:n.330+54C>T