Canonical Allele Identifier: CA200583207

Gene: HMCN2

Linked Data

• dbSNP Id: rs900702892
• gnomAD v2: 9-133308847-C-T
• gnomAD v3: 9-130433460-C-T
• gnomAD v4: 9-130433460-C-T
• MyVariant Identifiers: chr9:g.133308847C>T (hg19) ; chr9:g.130433460C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433460C>T , CM000671.2:g.130433460C>T	GRCh38
NC_000009.11:g.133308847C>T , CM000671.1:g.133308847C>T	GRCh37
NC_000009.10:g.132298668C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14950C>T	ENSP00000485357.2:p.Leu4984Phe
ENST00000683500.2:c.15007C>T MANE Select	ENSP00000508292.2:p.Leu5003Phe
ENST00000623487.1:n.3353C>T
ENST00000624552.3:c.14947C>T	ENSP00000485357.1:p.Leu4983Phe
NM_001291815.1:c.15007C>T	NP_001278744.1:p.Leu5003Phe
XM_011518465.1:c.14884C>T	XP_011516767.1:p.Leu4962Phe
XM_011518466.1:c.14875C>T	XP_011516768.1:p.Leu4959Phe
XM_011518467.1:c.14830C>T	XP_011516769.1:p.Leu4944Phe
NM_001291815.2:c.15007C>T MANE Select	NP_001278744.1:p.Leu5003Phe
XM_011518465.2:c.14884C>T	XP_011516767.1:p.Leu4962Phe
XM_011518466.2:c.14875C>T	XP_011516768.1:p.Leu4959Phe
XM_011518467.2:c.14830C>T	XP_011516769.1:p.Leu4944Phe
XM_017014585.1:c.11788C>T	XP_016870074.1:p.Leu3930Phe
XM_017014586.1:c.7585C>T	XP_016870075.1:p.Leu2529Phe
XR_001746957.1:n.92+161G>A
XR_001746958.1:n.92+161G>A