Canonical Allele Identifier: CA375219626

Gene: HMCN2

Linked Data

• MyVariant Identifiers: chr9:g.133308859T>G (hg19) ; chr9:g.130433472T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433472T>G , CM000671.2:g.130433472T>G	GRCh38
NC_000009.11:g.133308859T>G , CM000671.1:g.133308859T>G	GRCh37
NC_000009.10:g.132298680T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14962T>G	ENSP00000485357.2:p.Ser4988Ala
ENST00000683500.2:c.15019T>G MANE Select	ENSP00000508292.2:p.Ser5007Ala
ENST00000623487.1:n.3365T>G
ENST00000624552.3:c.14959T>G	ENSP00000485357.1:p.Ser4987Ala
NM_001291815.1:c.15019T>G	NP_001278744.1:p.Ser5007Ala
XM_011518465.1:c.14896T>G	XP_011516767.1:p.Ser4966Ala
XM_011518466.1:c.14887T>G	XP_011516768.1:p.Ser4963Ala
XM_011518467.1:c.14842T>G	XP_011516769.1:p.Ser4948Ala
NM_001291815.2:c.15019T>G MANE Select	NP_001278744.1:p.Ser5007Ala
XM_011518465.2:c.14896T>G	XP_011516767.1:p.Ser4966Ala
XM_011518466.2:c.14887T>G	XP_011516768.1:p.Ser4963Ala
XM_011518467.2:c.14842T>G	XP_011516769.1:p.Ser4948Ala
XM_017014585.1:c.11800T>G	XP_016870074.1:p.Ser3934Ala
XM_017014586.1:c.7597T>G	XP_016870075.1:p.Ser2533Ala
XR_001746957.1:n.92+149A>C
XR_001746958.1:n.92+149A>C