Canonical Allele Identifier: CA467387166

Gene: HMCN2

Linked Data

• dbSNP Id: rs1429859291
• gnomAD v2: 9-133308738-G-C
• gnomAD v4: 9-130433351-G-C
• MyVariant Identifiers: chr9:g.133308738G>C (hg19) ; chr9:g.130433351G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433351G>C , CM000671.2:g.130433351G>C	GRCh38
NC_000009.11:g.133308738G>C , CM000671.1:g.133308738G>C	GRCh37
NC_000009.10:g.132298559G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14841G>C	ENSP00000485357.2:p.Thr4947=
ENST00000683500.2:c.14898G>C MANE Select	ENSP00000508292.2:p.Thr4966=
ENST00000623487.1:n.3244G>C
ENST00000624552.3:c.14838G>C	ENSP00000485357.1:p.Thr4946=
NM_001291815.1:c.14898G>C	NP_001278744.1:p.Thr4966=
XM_011518465.1:c.14775G>C	XP_011516767.1:p.Thr4925=
XM_011518466.1:c.14766G>C	XP_011516768.1:p.Thr4922=
XM_011518467.1:c.14721G>C	XP_011516769.1:p.Thr4907=
NM_001291815.2:c.14898G>C MANE Select	NP_001278744.1:p.Thr4966=
XM_011518465.2:c.14775G>C	XP_011516767.1:p.Thr4925=
XM_011518466.2:c.14766G>C	XP_011516768.1:p.Thr4922=
XM_011518467.2:c.14721G>C	XP_011516769.1:p.Thr4907=
XM_017014585.1:c.11679G>C	XP_016870074.1:p.Thr3893=
XM_017014586.1:c.7476G>C	XP_016870075.1:p.Thr2492=
XR_001746957.1:n.92+270C>G
XR_001746958.1:n.92+270C>G