Canonical Allele Identifier: CA467387215
Gene: HMCN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.133308789G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130433402G>T , CM000671.2:g.130433402G>T GRCh38
NC_000009.11:g.133308789G>T , CM000671.1:g.133308789G>T GRCh37
NC_000009.10:g.132298610G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000624552.4:c.14892G>T ENSP00000485357.2:p.Leu4964=
ENST00000683500.2:c.14949G>T MANE Select ENSP00000508292.2:p.Leu4983=
ENST00000623487.1:n.3295G>T
ENST00000624552.3:c.14889G>T ENSP00000485357.1:p.Leu4963=
NM_001291815.1:c.14949G>T NP_001278744.1:p.Leu4983=
XM_011518465.1:c.14826G>T XP_011516767.1:p.Leu4942=
XM_011518466.1:c.14817G>T XP_011516768.1:p.Leu4939=
XM_011518467.1:c.14772G>T XP_011516769.1:p.Leu4924=
NM_001291815.2:c.14949G>T MANE Select NP_001278744.1:p.Leu4983=
XM_011518465.2:c.14826G>T XP_011516767.1:p.Leu4942=
XM_011518466.2:c.14817G>T XP_011516768.1:p.Leu4939=
XM_011518467.2:c.14772G>T XP_011516769.1:p.Leu4924=
XM_017014585.1:c.11730G>T XP_016870074.1:p.Leu3910=
XM_017014586.1:c.7527G>T XP_016870075.1:p.Leu2509=
XR_001746957.1:n.92+219C>A
XR_001746958.1:n.92+219C>A