Canonical Allele Identifier: CA375219341

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433401-T-C
• MyVariant Identifiers: chr9:g.133308788T>C (hg19) ; chr9:g.130433401T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433401T>C , CM000671.2:g.130433401T>C	GRCh38
NC_000009.11:g.133308788T>C , CM000671.1:g.133308788T>C	GRCh37
NC_000009.10:g.132298609T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000624552.4:c.14891T>C	ENSP00000485357.2:p.Leu4964Pro
ENST00000683500.2:c.14948T>C MANE Select	ENSP00000508292.2:p.Leu4983Pro
ENST00000623487.1:n.3294T>C
ENST00000624552.3:c.14888T>C	ENSP00000485357.1:p.Leu4963Pro
NM_001291815.1:c.14948T>C	NP_001278744.1:p.Leu4983Pro
XM_011518465.1:c.14825T>C	XP_011516767.1:p.Leu4942Pro
XM_011518466.1:c.14816T>C	XP_011516768.1:p.Leu4939Pro
XM_011518467.1:c.14771T>C	XP_011516769.1:p.Leu4924Pro
NM_001291815.2:c.14948T>C MANE Select	NP_001278744.1:p.Leu4983Pro
XM_011518465.2:c.14825T>C	XP_011516767.1:p.Leu4942Pro
XM_011518466.2:c.14816T>C	XP_011516768.1:p.Leu4939Pro
XM_011518467.2:c.14771T>C	XP_011516769.1:p.Leu4924Pro
XM_017014585.1:c.11729T>C	XP_016870074.1:p.Leu3910Pro
XM_017014586.1:c.7526T>C	XP_016870075.1:p.Leu2509Pro
XR_001746957.1:n.92+220A>G
XR_001746958.1:n.92+220A>G