Canonical Allele Identifier: CA9198358

Gene: SLC44A2

Linked Data

• dbSNP Id: rs377482215
• ExAC: 19:10742209 C / T
• gnomAD v2: 19-10742209-C-T
• gnomAD v3: 19-10631533-C-T
• gnomAD v4: 19-10631533-C-T
• MyVariant Identifiers: chr19:g.10742209C>T (hg19) ; chr19:g.10631533C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10631533C>T , CM000681.2:g.10631533C>T	GRCh38
NC_000019.9:g.10742209C>T , CM000681.1:g.10742209C>T	GRCh37
NC_000019.8:g.10603209C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335757.10:c.500C>T MANE Select	ENSP00000336888.4:p.Pro167Leu
ENST00000335757.9:c.500C>T	ENSP00000336888.4:p.Pro167Leu
ENST00000407327.8:c.494C>T	ENSP00000385135.3:p.Pro165Leu
ENST00000586078.5:c.500C>T	ENSP00000466664.1:p.Pro167Leu
ENST00000588409.1:c.246-3223C>T	ENSP00000468070.1:n.246-3223C>T
ENST00000588465.5:n.409C>T
ENST00000588688.5:c.341C>T	ENSP00000467552.1:p.Pro114Leu
ENST00000590382.5:c.335C>T	ENSP00000468691.1:p.Pro112Leu
ENST00000590857.5:c.-50C>T	ENSP00000465547.1:n.-50C>T
ENST00000592293.5:c.*297C>T	ENSP00000466612.1:n.*297C>T
NM_001145056.1:c.494C>T	NP_001138528.1:p.Pro165Leu
NM_020428.3:c.500C>T	NP_065161.3:p.Pro167Leu
XM_005259997.1:c.500C>T	XP_005260054.1:p.Pro167Leu
XM_005259999.1:c.494C>T	XP_005260056.1:p.Pro165Leu
NM_001363611.1:c.500C>T	NP_001350540.1:p.Pro167Leu
XM_005259999.2:c.494C>T	XP_005260056.1:p.Pro165Leu
NM_020428.4:c.500C>T MANE Select	NP_065161.3:p.Pro167Leu
NM_001145056.2:c.494C>T	NP_001138528.1:p.Pro165Leu
NM_001363611.2:c.500C>T	NP_001350540.1:p.Pro167Leu