Canonical Allele Identifier: CA375219611

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433469-T-C
• MyVariant Identifiers: chr9:g.133308856T>C (hg19) ; chr9:g.130433469T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433469T>C , CM000671.2:g.130433469T>C	GRCh38
NC_000009.11:g.133308856T>C , CM000671.1:g.133308856T>C	GRCh37
NC_000009.10:g.132298677T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14959T>C	ENSP00000485357.2:p.Phe4987Leu
ENST00000683500.2:c.15016T>C MANE Select	ENSP00000508292.2:p.Phe5006Leu
ENST00000623487.1:n.3362T>C
ENST00000624552.3:c.14956T>C	ENSP00000485357.1:p.Phe4986Leu
NM_001291815.1:c.15016T>C	NP_001278744.1:p.Phe5006Leu
XM_011518465.1:c.14893T>C	XP_011516767.1:p.Phe4965Leu
XM_011518466.1:c.14884T>C	XP_011516768.1:p.Phe4962Leu
XM_011518467.1:c.14839T>C	XP_011516769.1:p.Phe4947Leu
NM_001291815.2:c.15016T>C MANE Select	NP_001278744.1:p.Phe5006Leu
XM_011518465.2:c.14893T>C	XP_011516767.1:p.Phe4965Leu
XM_011518466.2:c.14884T>C	XP_011516768.1:p.Phe4962Leu
XM_011518467.2:c.14839T>C	XP_011516769.1:p.Phe4947Leu
XM_017014585.1:c.11797T>C	XP_016870074.1:p.Phe3933Leu
XM_017014586.1:c.7594T>C	XP_016870075.1:p.Phe2532Leu
XR_001746957.1:n.92+152A>G
XR_001746958.1:n.92+152A>G