Canonical Allele Identifier: CA375219314

Gene: HMCN2

Linked Data

• dbSNP Id: rs1844883344
• gnomAD v4: 9-130433395-C-T
• MyVariant Identifiers: chr9:g.133308782C>T (hg19) ; chr9:g.130433395C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433395C>T , CM000671.2:g.130433395C>T	GRCh38
NC_000009.11:g.133308782C>T , CM000671.1:g.133308782C>T	GRCh37
NC_000009.10:g.132298603C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000624552.4:c.14885C>T	ENSP00000485357.2:p.Ser4962Phe
ENST00000683500.2:c.14942C>T MANE Select	ENSP00000508292.2:p.Ser4981Phe
ENST00000623487.1:n.3288C>T
ENST00000624552.3:c.14882C>T	ENSP00000485357.1:p.Ser4961Phe
NM_001291815.1:c.14942C>T	NP_001278744.1:p.Ser4981Phe
XM_011518465.1:c.14819C>T	XP_011516767.1:p.Ser4940Phe
XM_011518466.1:c.14810C>T	XP_011516768.1:p.Ser4937Phe
XM_011518467.1:c.14765C>T	XP_011516769.1:p.Ser4922Phe
NM_001291815.2:c.14942C>T MANE Select	NP_001278744.1:p.Ser4981Phe
XM_011518465.2:c.14819C>T	XP_011516767.1:p.Ser4940Phe
XM_011518466.2:c.14810C>T	XP_011516768.1:p.Ser4937Phe
XM_011518467.2:c.14765C>T	XP_011516769.1:p.Ser4922Phe
XM_017014585.1:c.11723C>T	XP_016870074.1:p.Ser3908Phe
XM_017014586.1:c.7520C>T	XP_016870075.1:p.Ser2507Phe
XR_001746957.1:n.92+226G>A
XR_001746958.1:n.92+226G>A