Canonical Allele Identifier: CA9198291

Gene: SLC44A2

Linked Data

• dbSNP Id: rs759589928
• ExAC: 19:10741853 C / A
• gnomAD v2: 19-10741853-C-A
• gnomAD v4: 19-10631177-C-A
• MyVariant Identifiers: chr19:g.10741853C>A (hg19) ; chr19:g.10631177C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10631177C>A , CM000681.2:g.10631177C>A	GRCh38
NC_000019.9:g.10741853C>A , CM000681.1:g.10741853C>A	GRCh37
NC_000019.8:g.10602853C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335757.10:c.330+36C>A MANE Select	ENSP00000336888.4:n.330+36C>A
ENST00000335757.9:c.330+36C>A	ENSP00000336888.4:n.330+36C>A
ENST00000407327.8:c.324+36C>A	ENSP00000385135.3:n.324+36C>A
ENST00000586078.5:c.330+36C>A	ENSP00000466664.1:n.330+36C>A
ENST00000588409.1:c.245+3173C>A	ENSP00000468070.1:n.245+3173C>A
ENST00000588465.5:n.239+36C>A
ENST00000588688.5:c.171+36C>A	ENSP00000467552.1:n.171+36C>A
ENST00000590382.5:c.165+36C>A	ENSP00000468691.1:n.165+36C>A
ENST00000590857.5:c.-220+36C>A	ENSP00000465547.1:n.-220+36C>A
ENST00000592293.5:c.*127+36C>A	ENSP00000466612.1:n.*127+36C>A
NM_001145056.1:c.324+36C>A	NP_001138528.1:n.324+36C>A
NM_020428.3:c.330+36C>A	NP_065161.3:n.330+36C>A
XM_005259997.1:c.330+36C>A	XP_005260054.1:n.330+36C>A
XM_005259999.1:c.324+36C>A	XP_005260056.1:n.324+36C>A
NM_001363611.1:c.330+36C>A	NP_001350540.1:n.330+36C>A
XM_005259999.2:c.324+36C>A	XP_005260056.1:n.324+36C>A
NM_020428.4:c.330+36C>A MANE Select	NP_065161.3:n.330+36C>A
NM_001145056.2:c.324+36C>A	NP_001138528.1:n.324+36C>A
NM_001363611.2:c.330+36C>A	NP_001350540.1:n.330+36C>A