Canonical Allele Identifier: CA404017882

Gene: SLC44A2

Linked Data

• gnomAD v4: 19-10631081-C-G
• MyVariant Identifiers: chr19:g.10741757C>G (hg19) ; chr19:g.10631081C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10631081C>G , CM000681.2:g.10631081C>G	GRCh38
NC_000019.9:g.10741757C>G , CM000681.1:g.10741757C>G	GRCh37
NC_000019.8:g.10602757C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335757.10:c.270C>G MANE Select	ENSP00000336888.4:p.Phe90Leu
ENST00000335757.9:c.270C>G	ENSP00000336888.4:p.Phe90Leu
ENST00000407327.8:c.264C>G	ENSP00000385135.3:p.Phe88Leu
ENST00000586078.5:c.270C>G	ENSP00000466664.1:p.Phe90Leu
ENST00000588409.1:c.245+3077C>G	ENSP00000468070.1:n.245+3077C>G
ENST00000588465.5:n.179C>G
ENST00000588688.5:c.111C>G	ENSP00000467552.1:p.Phe37Leu
ENST00000590382.5:c.105C>G	ENSP00000468691.1:p.Phe35Leu
ENST00000590857.5:c.-280C>G	ENSP00000465547.1:n.-280C>G
ENST00000592293.5:c.*67C>G	ENSP00000466612.1:n.*67C>G
NM_001145056.1:c.264C>G	NP_001138528.1:p.Phe88Leu
NM_020428.3:c.270C>G	NP_065161.3:p.Phe90Leu
XM_005259997.1:c.270C>G	XP_005260054.1:p.Phe90Leu
XM_005259999.1:c.264C>G	XP_005260056.1:p.Phe88Leu
NM_001363611.1:c.270C>G	NP_001350540.1:p.Phe90Leu
XM_005259999.2:c.264C>G	XP_005260056.1:p.Phe88Leu
NM_020428.4:c.270C>G MANE Select	NP_065161.3:p.Phe90Leu
NM_001145056.2:c.264C>G	NP_001138528.1:p.Phe88Leu
NM_001363611.2:c.270C>G	NP_001350540.1:p.Phe90Leu