Canonical Allele Identifier: CA375219167

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433356-T-C
• MyVariant Identifiers: chr9:g.133308743T>C (hg19) ; chr9:g.130433356T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433356T>C , CM000671.2:g.130433356T>C	GRCh38
NC_000009.11:g.133308743T>C , CM000671.1:g.133308743T>C	GRCh37
NC_000009.10:g.132298564T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14846T>C	ENSP00000485357.2:p.Phe4949Ser
ENST00000683500.2:c.14903T>C MANE Select	ENSP00000508292.2:p.Phe4968Ser
ENST00000623487.1:n.3249T>C
ENST00000624552.3:c.14843T>C	ENSP00000485357.1:p.Phe4948Ser
NM_001291815.1:c.14903T>C	NP_001278744.1:p.Phe4968Ser
XM_011518465.1:c.14780T>C	XP_011516767.1:p.Phe4927Ser
XM_011518466.1:c.14771T>C	XP_011516768.1:p.Phe4924Ser
XM_011518467.1:c.14726T>C	XP_011516769.1:p.Phe4909Ser
NM_001291815.2:c.14903T>C MANE Select	NP_001278744.1:p.Phe4968Ser
XM_011518465.2:c.14780T>C	XP_011516767.1:p.Phe4927Ser
XM_011518466.2:c.14771T>C	XP_011516768.1:p.Phe4924Ser
XM_011518467.2:c.14726T>C	XP_011516769.1:p.Phe4909Ser
XM_017014585.1:c.11684T>C	XP_016870074.1:p.Phe3895Ser
XM_017014586.1:c.7481T>C	XP_016870075.1:p.Phe2494Ser
XR_001746957.1:n.92+265A>G
XR_001746958.1:n.92+265A>G