Canonical Allele Identifier: CA505385917

Gene: SLC44A2

Linked Data

• dbSNP Id: rs1255327052
• gnomAD v2: 19-10742004-C-T
• gnomAD v4: 19-10631328-C-T
• MyVariant Identifiers: chr19:g.10742004C>T (hg19) ; chr19:g.10631328C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10631328C>T , CM000681.2:g.10631328C>T	GRCh38
NC_000019.9:g.10742004C>T , CM000681.1:g.10742004C>T	GRCh37
NC_000019.8:g.10603004C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335757.10:c.384C>T MANE Select	ENSP00000336888.4:p.Ser128=
ENST00000335757.9:c.384C>T	ENSP00000336888.4:p.Ser128=
ENST00000407327.8:c.378C>T	ENSP00000385135.3:p.Ser126=
ENST00000586078.5:c.384C>T	ENSP00000466664.1:p.Ser128=
ENST00000588409.1:c.245+3324C>T	ENSP00000468070.1:n.245+3324C>T
ENST00000588465.5:n.293C>T
ENST00000588688.5:c.225C>T	ENSP00000467552.1:p.Ser75=
ENST00000590382.5:c.219C>T	ENSP00000468691.1:p.Ser73=
ENST00000590857.5:c.-166C>T	ENSP00000465547.1:n.-166C>T
ENST00000592293.5:c.*181C>T	ENSP00000466612.1:n.*181C>T
NM_001145056.1:c.378C>T	NP_001138528.1:p.Ser126=
NM_020428.3:c.384C>T	NP_065161.3:p.Ser128=
XM_005259997.1:c.384C>T	XP_005260054.1:p.Ser128=
XM_005259999.1:c.378C>T	XP_005260056.1:p.Ser126=
NM_001363611.1:c.384C>T	NP_001350540.1:p.Ser128=
XM_005259999.2:c.378C>T	XP_005260056.1:p.Ser126=
NM_020428.4:c.384C>T MANE Select	NP_065161.3:p.Ser128=
NM_001145056.2:c.378C>T	NP_001138528.1:p.Ser126=
NM_001363611.2:c.384C>T	NP_001350540.1:p.Ser128=