Canonical Allele Identifier: CA404019413

Gene: SLC44A2

Linked Data

• MyVariant Identifiers: chr19:g.10742207A>T (hg19) ; chr19:g.10631531A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10631531A>T , CM000681.2:g.10631531A>T	GRCh38
NC_000019.9:g.10742207A>T , CM000681.1:g.10742207A>T	GRCh37
NC_000019.8:g.10603207A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335757.10:c.498A>T MANE Select	ENSP00000336888.4:p.Lys166Asn
ENST00000335757.9:c.498A>T	ENSP00000336888.4:p.Lys166Asn
ENST00000407327.8:c.492A>T	ENSP00000385135.3:p.Lys164Asn
ENST00000586078.5:c.498A>T	ENSP00000466664.1:p.Lys166Asn
ENST00000588409.1:c.246-3225A>T	ENSP00000468070.1:n.246-3225A>T
ENST00000588465.5:n.407A>T
ENST00000588688.5:c.339A>T	ENSP00000467552.1:p.Lys113Asn
ENST00000590382.5:c.333A>T	ENSP00000468691.1:p.Lys111Asn
ENST00000590857.5:c.-52A>T	ENSP00000465547.1:n.-52A>T
ENST00000592293.5:c.*295A>T	ENSP00000466612.1:n.*295A>T
NM_001145056.1:c.492A>T	NP_001138528.1:p.Lys164Asn
NM_020428.3:c.498A>T	NP_065161.3:p.Lys166Asn
XM_005259997.1:c.498A>T	XP_005260054.1:p.Lys166Asn
XM_005259999.1:c.492A>T	XP_005260056.1:p.Lys164Asn
NM_001363611.1:c.498A>T	NP_001350540.1:p.Lys166Asn
XM_005259999.2:c.492A>T	XP_005260056.1:p.Lys164Asn
NM_020428.4:c.498A>T MANE Select	NP_065161.3:p.Lys166Asn
NM_001145056.2:c.492A>T	NP_001138528.1:p.Lys164Asn
NM_001363611.2:c.498A>T	NP_001350540.1:p.Lys166Asn