Canonical Allele Identifier: CA467387249
Gene: HMCN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.133308825C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130433438C>G , CM000671.2:g.130433438C>G GRCh38
NC_000009.11:g.133308825C>G , CM000671.1:g.133308825C>G GRCh37
NC_000009.10:g.132298646C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000624552.4:c.14928C>G ENSP00000485357.2:p.Arg4976=
ENST00000683500.2:c.14985C>G MANE Select ENSP00000508292.2:p.Arg4995=
ENST00000623487.1:n.3331C>G
ENST00000624552.3:c.14925C>G ENSP00000485357.1:p.Arg4975=
NM_001291815.1:c.14985C>G NP_001278744.1:p.Arg4995=
XM_011518465.1:c.14862C>G XP_011516767.1:p.Arg4954=
XM_011518466.1:c.14853C>G XP_011516768.1:p.Arg4951=
XM_011518467.1:c.14808C>G XP_011516769.1:p.Arg4936=
NM_001291815.2:c.14985C>G MANE Select NP_001278744.1:p.Arg4995=
XM_011518465.2:c.14862C>G XP_011516767.1:p.Arg4954=
XM_011518466.2:c.14853C>G XP_011516768.1:p.Arg4951=
XM_011518467.2:c.14808C>G XP_011516769.1:p.Arg4936=
XM_017014585.1:c.11766C>G XP_016870074.1:p.Arg3922=
XM_017014586.1:c.7563C>G XP_016870075.1:p.Arg2521=
XR_001746957.1:n.92+183G>C
XR_001746958.1:n.92+183G>C