Canonical Allele Identifier: CA200583230

Gene: HMCN2

Linked Data

• dbSNP Id: rs1030104614
• gnomAD v4: 9-130433474-C-T
• MyVariant Identifiers: chr9:g.133308861C>T (hg19) ; chr9:g.130433474C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433474C>T , CM000671.2:g.130433474C>T	GRCh38
NC_000009.11:g.133308861C>T , CM000671.1:g.133308861C>T	GRCh37
NC_000009.10:g.132298682C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14964C>T	ENSP00000485357.2:p.Ser4988=
ENST00000683500.2:c.15021C>T MANE Select	ENSP00000508292.2:p.Ser5007=
ENST00000623487.1:n.3367C>T
ENST00000624552.3:c.14961C>T	ENSP00000485357.1:p.Ser4987=
NM_001291815.1:c.15021C>T	NP_001278744.1:p.Ser5007=
XM_011518465.1:c.14898C>T	XP_011516767.1:p.Ser4966=
XM_011518466.1:c.14889C>T	XP_011516768.1:p.Ser4963=
XM_011518467.1:c.14844C>T	XP_011516769.1:p.Ser4948=
NM_001291815.2:c.15021C>T MANE Select	NP_001278744.1:p.Ser5007=
XM_011518465.2:c.14898C>T	XP_011516767.1:p.Ser4966=
XM_011518466.2:c.14889C>T	XP_011516768.1:p.Ser4963=
XM_011518467.2:c.14844C>T	XP_011516769.1:p.Ser4948=
XM_017014585.1:c.11802C>T	XP_016870074.1:p.Ser3934=
XM_017014586.1:c.7599C>T	XP_016870075.1:p.Ser2533=
XR_001746957.1:n.92+147G>A
XR_001746958.1:n.92+147G>A