Canonical Allele Identifier: CA200583081

Gene: HMCN2

Linked Data

• dbSNP Id: rs1006615
• gnomAD v4: 9-130433393-C-A
• MyVariant Identifiers: chr9:g.133308780C>A (hg19) ; chr9:g.130433393C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433393C>A , CM000671.2:g.130433393C>A	GRCh38
NC_000009.11:g.133308780C>A , CM000671.1:g.133308780C>A	GRCh37
NC_000009.10:g.132298601C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000624552.4:c.14883C>A	ENSP00000485357.2:p.Pro4961=
ENST00000683500.2:c.14940C>A MANE Select	ENSP00000508292.2:p.Pro4980=
ENST00000623487.1:n.3286C>A
ENST00000624552.3:c.14880C>A	ENSP00000485357.1:p.Pro4960=
NM_001291815.1:c.14940C>A	NP_001278744.1:p.Pro4980=
XM_011518465.1:c.14817C>A	XP_011516767.1:p.Pro4939=
XM_011518466.1:c.14808C>A	XP_011516768.1:p.Pro4936=
XM_011518467.1:c.14763C>A	XP_011516769.1:p.Pro4921=
NM_001291815.2:c.14940C>A MANE Select	NP_001278744.1:p.Pro4980=
XM_011518465.2:c.14817C>A	XP_011516767.1:p.Pro4939=
XM_011518466.2:c.14808C>A	XP_011516768.1:p.Pro4936=
XM_011518467.2:c.14763C>A	XP_011516769.1:p.Pro4921=
XM_017014585.1:c.11721C>A	XP_016870074.1:p.Pro3907=
XM_017014586.1:c.7518C>A	XP_016870075.1:p.Pro2506=
XR_001746957.1:n.92+228G>T
XR_001746958.1:n.92+228G>T