Canonical Allele Identifier: CA357378584

Gene: BMP2K

Linked Data

• gnomAD v4: 4-78865645-G-T
• MyVariant Identifiers: chr4:g.79786799G>T (hg19) ; chr4:g.78865645G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78865645G>T , CM000666.2:g.78865645G>T	GRCh38
NC_000004.11:g.79786799G>T , CM000666.1:g.79786799G>T	GRCh37
NC_000004.10:g.80005823G>T	NCBI36
NG_047162.1:g.94268G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.1156G>T MANE Select	ENSP00000424668.2:p.Val386Leu
ENST00000335016.9:c.1156G>T	ENSP00000334836.5:p.Val386Leu
ENST00000389010.7:c.*132G>T	ENSP00000373662.3:n.*132G>T
ENST00000502613.1:c.233G>T
ENST00000502871.5:c.1156G>T	ENSP00000421768.1:p.Val386Leu
ENST00000505725.1:n.438G>T
ENST00000628286.1:c.*132G>T	ENSP00000487317.1:n.*132G>T
NM_017593.3:c.1156G>T	NP_060063.2:p.Val386Leu
NM_198892.1:c.1156G>T	NP_942595.1:p.Val386Leu
XM_005263117.1:c.1156G>T	XP_005263174.1:p.Val386Leu
XM_011532101.1:c.916G>T	XP_011530403.1:p.Val306Leu
XM_011532102.1:c.1156G>T	XP_011530404.1:p.Val386Leu
XM_017008381.1:c.916G>T	XP_016863870.1:p.Val306Leu
XM_017008382.1:c.268G>T	XP_016863871.1:p.Val90Leu
NM_017593.4:c.1156G>T	NP_060063.2:p.Val386Leu
NM_017593.5:c.1156G>T	NP_060063.2:p.Val386Leu
NM_198892.2:c.1156G>T MANE Select	NP_942595.1:p.Val386Leu