Canonical Allele Identifier: CA305238496

Gene: SLC44A2

Linked Data

• dbSNP Id: rs150141328
• gnomAD v2: 19-10741971-C-T
• gnomAD v3: 19-10631295-C-T
• gnomAD v4: 19-10631295-C-T
• MyVariant Identifiers: chr19:g.10741971C>T (hg19) ; chr19:g.10631295C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10631295C>T , CM000681.2:g.10631295C>T	GRCh38
NC_000019.9:g.10741971C>T , CM000681.1:g.10741971C>T	GRCh37
NC_000019.8:g.10602971C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335757.10:c.351C>T MANE Select	ENSP00000336888.4:p.Pro117=
ENST00000335757.9:c.351C>T	ENSP00000336888.4:p.Pro117=
ENST00000407327.8:c.345C>T	ENSP00000385135.3:p.Pro115=
ENST00000586078.5:c.351C>T	ENSP00000466664.1:p.Pro117=
ENST00000588409.1:c.245+3291C>T	ENSP00000468070.1:n.245+3291C>T
ENST00000588465.5:n.260C>T
ENST00000588688.5:c.192C>T	ENSP00000467552.1:p.Pro64=
ENST00000590382.5:c.186C>T	ENSP00000468691.1:p.Pro62=
ENST00000590857.5:c.-199C>T	ENSP00000465547.1:n.-199C>T
ENST00000592293.5:c.*148C>T	ENSP00000466612.1:n.*148C>T
NM_001145056.1:c.345C>T	NP_001138528.1:p.Pro115=
NM_020428.3:c.351C>T	NP_065161.3:p.Pro117=
XM_005259997.1:c.351C>T	XP_005260054.1:p.Pro117=
XM_005259999.1:c.345C>T	XP_005260056.1:p.Pro115=
NM_001363611.1:c.351C>T	NP_001350540.1:p.Pro117=
XM_005259999.2:c.345C>T	XP_005260056.1:p.Pro115=
NM_020428.4:c.351C>T MANE Select	NP_065161.3:p.Pro117=
NM_001145056.2:c.345C>T	NP_001138528.1:p.Pro115=
NM_001363611.2:c.351C>T	NP_001350540.1:p.Pro117=