Canonical Allele Identifier: CA12134400
Community Standard Title: NM_181776.3(SLC36A2):c.1180+140C>G
Gene: SLC36A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151321906G>C , CM000667.2:g.151321906G>C GRCh38
NC_000005.9:g.150701467G>C , CM000667.1:g.150701467G>C GRCh37
NC_000005.8:g.150681660G>C NCBI36
NG_027745.1:g.30685C>G

Transcript Alleles

HGVS Amino-acid Change
NM_181776.3:c.1180+140C>G MANE Select NP_861441.2:n.1180+140C>G
ENST00000335244.9:c.1180+140C>G MANE Select ENSP00000334223.4:n.1180+140C>G
NM_181776.2:c.1180+140C>G NP_861441.2:n.1180+140C>G
ENST00000335244.8:c.1180+140C>G ENSP00000334223.4:n.1180+140C>G
ENST00000518280.5:c.*651+140C>G ENSP00000428453.1:n.*651+140C>G
ENST00000518617.5:c.*748+140C>G ENSP00000430149.1:n.*748+140C>G
ENST00000521967.1:c.*132C>G ENSP00000430535.1:n.*132C>G
XM_005268377.3:c.1180+140C>G XP_005268434.1:n.1180+140C>G
XM_005268377.4:c.1180+140C>G XP_005268434.1:n.1180+140C>G
XM_006714756.2:c.1081+140C>G XP_006714819.1:n.1081+140C>G
XM_006714756.4:c.1081+140C>G XP_006714819.1:n.1081+140C>G
XM_017009084.1:c.586+140C>G XP_016864573.1:n.586+140C>G