Canonical Allele Identifier: CA2695234500
Gene: SLC16A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74422009_74422010dup , CM000685.2:g.74422009_74422010dup GRCh38
NC_000023.10:g.73641844_73641845dup , CM000685.1:g.73641844_73641845dup GRCh37
NC_000023.9:g.73558569_73558570dup NCBI36
NG_011641.1:g.5760_5761dup
NG_011641.2:g.5760_5761dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.372_373dup MANE Select ENSP00000465734.1:p.Tyr125SerfsTer6
ENST00000636771.1:c.118_119dup
ENST00000587091.5:c.372_373dup ENSP00000465734.1:p.Tyr125SerfsTer6
NM_006517.4:c.372_373dup NP_006508.2:p.Tyr125SerfsTer6
XM_005262294.1:c.372_373dup XP_005262351.1:p.Tyr125SerfsTer6
XM_011531015.1:c.372_373dup XP_011529317.1:p.Tyr125SerfsTer6
NM_006517.5:c.372_373dup MANE Select NP_006508.2:p.Tyr125SerfsTer6