Canonical Allele Identifier: CA375219171

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433357-C-A
• MyVariant Identifiers: chr9:g.133308744C>A (hg19) ; chr9:g.130433357C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433357C>A , CM000671.2:g.130433357C>A	GRCh38
NC_000009.11:g.133308744C>A , CM000671.1:g.133308744C>A	GRCh37
NC_000009.10:g.132298565C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14847C>A	ENSP00000485357.2:p.Phe4949Leu
ENST00000683500.2:c.14904C>A MANE Select	ENSP00000508292.2:p.Phe4968Leu
ENST00000623487.1:n.3250C>A
ENST00000624552.3:c.14844C>A	ENSP00000485357.1:p.Phe4948Leu
NM_001291815.1:c.14904C>A	NP_001278744.1:p.Phe4968Leu
XM_011518465.1:c.14781C>A	XP_011516767.1:p.Phe4927Leu
XM_011518466.1:c.14772C>A	XP_011516768.1:p.Phe4924Leu
XM_011518467.1:c.14727C>A	XP_011516769.1:p.Phe4909Leu
NM_001291815.2:c.14904C>A MANE Select	NP_001278744.1:p.Phe4968Leu
XM_011518465.2:c.14781C>A	XP_011516767.1:p.Phe4927Leu
XM_011518466.2:c.14772C>A	XP_011516768.1:p.Phe4924Leu
XM_011518467.2:c.14727C>A	XP_011516769.1:p.Phe4909Leu
XM_017014585.1:c.11685C>A	XP_016870074.1:p.Phe3895Leu
XM_017014586.1:c.7482C>A	XP_016870075.1:p.Phe2494Leu
XR_001746957.1:n.92+264G>T
XR_001746958.1:n.92+264G>T