Canonical Allele Identifier: CA467387266
Gene: HMCN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.133308849C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130433462C>G , CM000671.2:g.130433462C>G GRCh38
NC_000009.11:g.133308849C>G , CM000671.1:g.133308849C>G GRCh37
NC_000009.10:g.132298670C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000624552.4:c.14952C>G ENSP00000485357.2:p.Leu4984=
ENST00000683500.2:c.15009C>G MANE Select ENSP00000508292.2:p.Leu5003=
ENST00000623487.1:n.3355C>G
ENST00000624552.3:c.14949C>G ENSP00000485357.1:p.Leu4983=
NM_001291815.1:c.15009C>G NP_001278744.1:p.Leu5003=
XM_011518465.1:c.14886C>G XP_011516767.1:p.Leu4962=
XM_011518466.1:c.14877C>G XP_011516768.1:p.Leu4959=
XM_011518467.1:c.14832C>G XP_011516769.1:p.Leu4944=
NM_001291815.2:c.15009C>G MANE Select NP_001278744.1:p.Leu5003=
XM_011518465.2:c.14886C>G XP_011516767.1:p.Leu4962=
XM_011518466.2:c.14877C>G XP_011516768.1:p.Leu4959=
XM_011518467.2:c.14832C>G XP_011516769.1:p.Leu4944=
XM_017014585.1:c.11790C>G XP_016870074.1:p.Leu3930=
XM_017014586.1:c.7587C>G XP_016870075.1:p.Leu2529=
XR_001746957.1:n.92+159G>C
XR_001746958.1:n.92+159G>C