Canonical Allele Identifier: CA375219509

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433443-A-C
• MyVariant Identifiers: chr9:g.133308830A>C (hg19) ; chr9:g.130433443A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433443A>C , CM000671.2:g.130433443A>C	GRCh38
NC_000009.11:g.133308830A>C , CM000671.1:g.133308830A>C	GRCh37
NC_000009.10:g.132298651A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14933A>C	ENSP00000485357.2:p.His4978Pro
ENST00000683500.2:c.14990A>C MANE Select	ENSP00000508292.2:p.His4997Pro
ENST00000623487.1:n.3336A>C
ENST00000624552.3:c.14930A>C	ENSP00000485357.1:p.His4977Pro
NM_001291815.1:c.14990A>C	NP_001278744.1:p.His4997Pro
XM_011518465.1:c.14867A>C	XP_011516767.1:p.His4956Pro
XM_011518466.1:c.14858A>C	XP_011516768.1:p.His4953Pro
XM_011518467.1:c.14813A>C	XP_011516769.1:p.His4938Pro
NM_001291815.2:c.14990A>C MANE Select	NP_001278744.1:p.His4997Pro
XM_011518465.2:c.14867A>C	XP_011516767.1:p.His4956Pro
XM_011518466.2:c.14858A>C	XP_011516768.1:p.His4953Pro
XM_011518467.2:c.14813A>C	XP_011516769.1:p.His4938Pro
XM_017014585.1:c.11771A>C	XP_016870074.1:p.His3924Pro
XM_017014586.1:c.7568A>C	XP_016870075.1:p.His2523Pro
XR_001746957.1:n.92+178T>G
XR_001746958.1:n.92+178T>G