Canonical Allele Identifier: CA375219536

Gene: HMCN2

Linked Data

• MyVariant Identifiers: chr9:g.133308836A>C (hg19) ; chr9:g.130433449A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433449A>C , CM000671.2:g.130433449A>C	GRCh38
NC_000009.11:g.133308836A>C , CM000671.1:g.133308836A>C	GRCh37
NC_000009.10:g.132298657A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14939A>C	ENSP00000485357.2:p.Asp4980Ala
ENST00000683500.2:c.14996A>C MANE Select	ENSP00000508292.2:p.Asp4999Ala
ENST00000623487.1:n.3342A>C
ENST00000624552.3:c.14936A>C	ENSP00000485357.1:p.Asp4979Ala
NM_001291815.1:c.14996A>C	NP_001278744.1:p.Asp4999Ala
XM_011518465.1:c.14873A>C	XP_011516767.1:p.Asp4958Ala
XM_011518466.1:c.14864A>C	XP_011516768.1:p.Asp4955Ala
XM_011518467.1:c.14819A>C	XP_011516769.1:p.Asp4940Ala
NM_001291815.2:c.14996A>C MANE Select	NP_001278744.1:p.Asp4999Ala
XM_011518465.2:c.14873A>C	XP_011516767.1:p.Asp4958Ala
XM_011518466.2:c.14864A>C	XP_011516768.1:p.Asp4955Ala
XM_011518467.2:c.14819A>C	XP_011516769.1:p.Asp4940Ala
XM_017014585.1:c.11777A>C	XP_016870074.1:p.Asp3926Ala
XM_017014586.1:c.7574A>C	XP_016870075.1:p.Asp2525Ala
XR_001746957.1:n.92+172T>G
XR_001746958.1:n.92+172T>G