Canonical Allele Identifier: CA375219446

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433428-T-C
• MyVariant Identifiers: chr9:g.133308815T>C (hg19) ; chr9:g.130433428T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433428T>C , CM000671.2:g.130433428T>C	GRCh38
NC_000009.11:g.133308815T>C , CM000671.1:g.133308815T>C	GRCh37
NC_000009.10:g.132298636T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14918T>C	ENSP00000485357.2:p.Leu4973Pro
ENST00000683500.2:c.14975T>C MANE Select	ENSP00000508292.2:p.Leu4992Pro
ENST00000623487.1:n.3321T>C
ENST00000624552.3:c.14915T>C	ENSP00000485357.1:p.Leu4972Pro
NM_001291815.1:c.14975T>C	NP_001278744.1:p.Leu4992Pro
XM_011518465.1:c.14852T>C	XP_011516767.1:p.Leu4951Pro
XM_011518466.1:c.14843T>C	XP_011516768.1:p.Leu4948Pro
XM_011518467.1:c.14798T>C	XP_011516769.1:p.Leu4933Pro
NM_001291815.2:c.14975T>C MANE Select	NP_001278744.1:p.Leu4992Pro
XM_011518465.2:c.14852T>C	XP_011516767.1:p.Leu4951Pro
XM_011518466.2:c.14843T>C	XP_011516768.1:p.Leu4948Pro
XM_011518467.2:c.14798T>C	XP_011516769.1:p.Leu4933Pro
XM_017014585.1:c.11756T>C	XP_016870074.1:p.Leu3919Pro
XM_017014586.1:c.7553T>C	XP_016870075.1:p.Leu2518Pro
XR_001746957.1:n.92+193A>G
XR_001746958.1:n.92+193A>G