Canonical Allele Identifier: CA505480863

Gene: SLC44A2

Linked Data

• gnomAD v4: 19-10631504-C-T
• MyVariant Identifiers: chr19:g.10742180C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10631504C>T , CM000681.2:g.10631504C>T	GRCh38
NC_000019.9:g.10742180C>T , CM000681.1:g.10742180C>T	GRCh37
NC_000019.8:g.10603180C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000335757.10:c.471C>T MANE Select	ENSP00000336888.4:p.Asp157=
ENST00000335757.9:c.471C>T	ENSP00000336888.4:p.Asp157=
ENST00000407327.8:c.465C>T	ENSP00000385135.3:p.Asp155=
ENST00000586078.5:c.471C>T	ENSP00000466664.1:p.Asp157=
ENST00000588409.1:c.246-3252C>T	ENSP00000468070.1:n.246-3252C>T
ENST00000588465.5:n.380C>T
ENST00000588688.5:c.312C>T	ENSP00000467552.1:p.Asp104=
ENST00000590382.5:c.306C>T	ENSP00000468691.1:p.Asp102=
ENST00000590857.5:c.-79C>T	ENSP00000465547.1:n.-79C>T
ENST00000592293.5:c.*268C>T	ENSP00000466612.1:n.*268C>T
NM_001145056.1:c.465C>T	NP_001138528.1:p.Asp155=
NM_020428.3:c.471C>T	NP_065161.3:p.Asp157=
XM_005259997.1:c.471C>T	XP_005260054.1:p.Asp157=
XM_005259999.1:c.465C>T	XP_005260056.1:p.Asp155=
NM_001363611.1:c.471C>T	NP_001350540.1:p.Asp157=
XM_005259999.2:c.465C>T	XP_005260056.1:p.Asp155=
NM_020428.4:c.471C>T MANE Select	NP_065161.3:p.Asp157=
NM_001145056.2:c.465C>T	NP_001138528.1:p.Asp155=
NM_001363611.2:c.471C>T	NP_001350540.1:p.Asp157=