Canonical Allele Identifier: CA404018495

Gene: SLC44A2

Linked Data

• MyVariant Identifiers: chr19:g.10741968C>G (hg19) ; chr19:g.10631292C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10631292C>G , CM000681.2:g.10631292C>G	GRCh38
NC_000019.9:g.10741968C>G , CM000681.1:g.10741968C>G	GRCh37
NC_000019.8:g.10602968C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335757.10:c.348C>G MANE Select	ENSP00000336888.4:p.Cys116Trp
ENST00000335757.9:c.348C>G	ENSP00000336888.4:p.Cys116Trp
ENST00000407327.8:c.342C>G	ENSP00000385135.3:p.Cys114Trp
ENST00000586078.5:c.348C>G	ENSP00000466664.1:p.Cys116Trp
ENST00000588409.1:c.245+3288C>G	ENSP00000468070.1:n.245+3288C>G
ENST00000588465.5:n.257C>G
ENST00000588688.5:c.189C>G	ENSP00000467552.1:p.Cys63Trp
ENST00000590382.5:c.183C>G	ENSP00000468691.1:p.Cys61Trp
ENST00000590857.5:c.-202C>G	ENSP00000465547.1:n.-202C>G
ENST00000592293.5:c.*145C>G	ENSP00000466612.1:n.*145C>G
NM_001145056.1:c.342C>G	NP_001138528.1:p.Cys114Trp
NM_020428.3:c.348C>G	NP_065161.3:p.Cys116Trp
XM_005259997.1:c.348C>G	XP_005260054.1:p.Cys116Trp
XM_005259999.1:c.342C>G	XP_005260056.1:p.Cys114Trp
NM_001363611.1:c.348C>G	NP_001350540.1:p.Cys116Trp
XM_005259999.2:c.342C>G	XP_005260056.1:p.Cys114Trp
NM_020428.4:c.348C>G MANE Select	NP_065161.3:p.Cys116Trp
NM_001145056.2:c.342C>G	NP_001138528.1:p.Cys114Trp
NM_001363611.2:c.348C>G	NP_001350540.1:p.Cys116Trp