Canonical Allele Identifier: CA375219625

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433472-T-C
• MyVariant Identifiers: chr9:g.133308859T>C (hg19) ; chr9:g.130433472T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14962T>C	ENSP00000485357.2:p.Ser4988Pro
ENST00000683500.2:c.15019T>C MANE Select	ENSP00000508292.2:p.Ser5007Pro
ENST00000623487.1:n.3365T>C
ENST00000624552.3:c.14959T>C	ENSP00000485357.1:p.Ser4987Pro
NM_001291815.1:c.15019T>C	NP_001278744.1:p.Ser5007Pro
XM_011518465.1:c.14896T>C	XP_011516767.1:p.Ser4966Pro
XM_011518466.1:c.14887T>C	XP_011516768.1:p.Ser4963Pro
XM_011518467.1:c.14842T>C	XP_011516769.1:p.Ser4948Pro
NM_001291815.2:c.15019T>C MANE Select	NP_001278744.1:p.Ser5007Pro
XM_011518465.2:c.14896T>C	XP_011516767.1:p.Ser4966Pro
XM_011518466.2:c.14887T>C	XP_011516768.1:p.Ser4963Pro
XM_011518467.2:c.14842T>C	XP_011516769.1:p.Ser4948Pro
XM_017014585.1:c.11800T>C	XP_016870074.1:p.Ser3934Pro
XM_017014586.1:c.7597T>C	XP_016870075.1:p.Ser2533Pro
XR_001746957.1:n.92+149A>G
XR_001746958.1:n.92+149A>G