Canonical Allele Identifier: CA375219496

Gene: HMCN2

Linked Data

• MyVariant Identifiers: chr9:g.133308827C>G (hg19) ; chr9:g.130433440C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433440C>G , CM000671.2:g.130433440C>G	GRCh38
NC_000009.11:g.133308827C>G , CM000671.1:g.133308827C>G	GRCh37
NC_000009.10:g.132298648C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14930C>G	ENSP00000485357.2:p.Ala4977Gly
ENST00000683500.2:c.14987C>G MANE Select	ENSP00000508292.2:p.Ala4996Gly
ENST00000623487.1:n.3333C>G
ENST00000624552.3:c.14927C>G	ENSP00000485357.1:p.Ala4976Gly
NM_001291815.1:c.14987C>G	NP_001278744.1:p.Ala4996Gly
XM_011518465.1:c.14864C>G	XP_011516767.1:p.Ala4955Gly
XM_011518466.1:c.14855C>G	XP_011516768.1:p.Ala4952Gly
XM_011518467.1:c.14810C>G	XP_011516769.1:p.Ala4937Gly
NM_001291815.2:c.14987C>G MANE Select	NP_001278744.1:p.Ala4996Gly
XM_011518465.2:c.14864C>G	XP_011516767.1:p.Ala4955Gly
XM_011518466.2:c.14855C>G	XP_011516768.1:p.Ala4952Gly
XM_011518467.2:c.14810C>G	XP_011516769.1:p.Ala4937Gly
XM_017014585.1:c.11768C>G	XP_016870074.1:p.Ala3923Gly
XM_017014586.1:c.7565C>G	XP_016870075.1:p.Ala2522Gly
XR_001746957.1:n.92+181G>C
XR_001746958.1:n.92+181G>C